A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169162



Internal ID3170978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38721186..38730347hg38UCSC Ensembl
Innerchr8:38721186..38730347hg38UCSC Ensembl
Outerchr8:38720954..38730608hg38UCSC Ensembl
chr8:38578704..38587865hg19UCSC Ensembl
Innerchr8:38578704..38587865hg19UCSC Ensembl
Outerchr8:38578472..38588126hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg389162
hg199162
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616933
Supporting Variants
SamplesNA12749
Known GenesTACC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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