A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169134



Internal ID3170950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38078635..38160673hg38UCSC Ensembl
Innerchr8:38078785..38160523hg38UCSC Ensembl
Outerchr8:38078485..38160823hg38UCSC Ensembl
chr8:37936153..38018191hg19UCSC Ensembl
Innerchr8:37936303..38018041hg19UCSC Ensembl
Outerchr8:37936003..38018341hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3882039
hg1982039
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616917
Supporting Variants
SamplesNA18910
Known GenesASH2L, STAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169134
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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