esv3598835

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:17
Validation:Not tested
Clinical Assertions: No
Region Size:5,379

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 145 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):179,160,452-179,166,475

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3598835	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
esv3598835	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11244288	deletion	SAMN00006457	Sequencing	Read depth and paired-end mapping	Heterozygous	2,804
essv11244289	deletion	SAMN00006478	Sequencing	Read depth and paired-end mapping	Heterozygous	2,526
essv11244290	deletion	SAMN00006498	Sequencing	Read depth and paired-end mapping	Heterozygous	2,728
essv11244291	deletion	SAMN00006549	Sequencing	Read depth and paired-end mapping	Heterozygous	2,738
essv11244292	deletion	SAMN00006577	Sequencing	Read depth and paired-end mapping	Heterozygous	2,149
essv11244293	deletion	SAMN00249901	Sequencing	Read depth and paired-end mapping	Heterozygous	2,694
essv11244294	deletion	SAMN00249919	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv11244295	deletion	SAMN00249935	Sequencing	Read depth and paired-end mapping	Heterozygous	2,680
essv11244296	deletion	SAMN00249943	Sequencing	Read depth and paired-end mapping	Heterozygous	2,665
essv11244297	deletion	SAMN00263062	Sequencing	Read depth and paired-end mapping	Heterozygous	2,829
essv11244298	deletion	SAMN01096686	Sequencing	Read depth and paired-end mapping	Heterozygous	2,657
essv11244299	deletion	SAMN00000936	Sequencing	Read depth and paired-end mapping	Heterozygous	2,132
essv11244300	deletion	SAMN00000431	Sequencing	Read depth and paired-end mapping	Heterozygous	2,751
essv11244301	deletion	SAMN00000377	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv11244302	deletion	SAMN00000464	Sequencing	Read depth and paired-end mapping	Heterozygous	2,512
essv11244303	deletion	SAMN00000506	Sequencing	Read depth and paired-end mapping	Heterozygous	2,732
essv11244304	deletion	SAMN00000510	Sequencing	Read depth and paired-end mapping	Heterozygous	2,620

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11244288	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244289	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244290	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244291	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244292	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244293	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244294	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244295	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244296	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244297	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244298	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244299	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244300	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244301	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244302	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244303	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244304	Remapped	Perfect	NC_000003.12:g.(17 9160452_179160798) _(179166176_179166 475)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	179,160,798 (-346, +0)	179,166,176 (-0, +299)
essv11244288	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244289	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244290	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244291	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244292	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244293	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244294	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244295	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244296	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244297	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244298	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244299	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244300	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244301	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244302	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244303	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)
essv11244304	Submitted genomic		NC_000003.11:g.(17 8878240_178878586) _(178883964_178884 263)del	GRCh37 (hg19)		NC_000003.11	Chr3	178,878,586 (-346, +0)	178,883,964 (-0, +299)

dbVar

Database of genomic structural variation

esv3598835

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.