A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14361808



Internal ID6319603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8973711..8979653hg38UCSC Ensembl
Innerchr12:8973714..8979650hg38UCSC Ensembl
Outerchr12:8973708..8979656hg38UCSC Ensembl
chr12:9126307..9132249hg19UCSC Ensembl
Innerchr12:9126310..9132246hg19UCSC Ensembl
Outerchr12:9126304..9132252hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628488
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14361808
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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