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Human Genome Issue HG-1208

GeneID: 388282 (LOC388282), poor quality (includes component misassembly)
AC092118.3 contains an 8 nucleotide deletion (AGGTGGGC) compared to the HuRef alternate assemblies, AC_000148.1, HTGS BACs AC009128.7 and AC092285.1. The 8 nts are present in orangutan, macaque and baboon. The 8 nt deletion affects a potential 173-aa ORF, although it's only conserved in chimp so it's not clear if the gene is coding or non-coding.
Resolved (GRC Resolved by Experimental Method)
Clone Problem
Last updated:
Experiment type:
Affects version:
Fix version:
GRCh37.p9, GRCh37.p12, GRCh38
PCR_RP11_AC092118_1 (FO082293.1) was created and successfully confirmed that 8 bases were missing from this region.

Patches and alternate loci

Scaffold type:
FIX patch to GRCh37
This sequence will be incorporated into the reference assembly in the next major assembly release. At that time, the accession number for this patch will be made secondary to the reference chromosome accession. This patch contains FO082293.1, which has been used to correct an 8 nt deletion in GRCh37 NC_000016.9 component AC092118.3 that affects representation of LOC388282.
Revision history of patches and alts for HG-1208
Assembly Scaffold type Contig name GenBank accession RefSeq accession Region
GRCh37.p9 FIX HG1208_PATCH JH720446.1 NW_003871085.1 REGION74

Locations and genomic context

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