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dbVar

Database of genomic structural variation

esv3841678

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:211

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 189 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):112,907,145-112,907,355

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3841678	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,907,145	112,907,355
esv3841678	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	112,242,842	112,243,052

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19693165	deletion	NA19463	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,890
essv19693166	deletion	NA20357	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,860

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19693165	Remapped	Perfect	NC_000005.10:g.112 907145_112907355de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,907,145	112,907,355
essv19693166	Remapped	Perfect	NC_000005.10:g.112 907145_112907355de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,907,145	112,907,355
essv19693165	Submitted genomic		NC_000005.9:g.1122 42842_112243052del	GRCh37 (hg19)		NC_000005.9	Chr5	112,242,842	112,243,052
essv19693166	Submitted genomic		NC_000005.9:g.1122 42842_112243052del	GRCh37 (hg19)		NC_000005.9	Chr5	112,242,842	112,243,052

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.

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