A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13531846



Internal ID6817601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77386177..77418202hg38UCSC Ensembl
Innerchr9:77386177..77418202hg38UCSC Ensembl
Outerchr9:77385677..77418702hg38UCSC Ensembl
chr9:80001093..80033118hg19UCSC Ensembl
Innerchr9:80001093..80033118hg19UCSC Ensembl
Outerchr9:80000593..80033618hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3832026
hg1932026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620773
Supporting Variants
SamplesNA20897
Known GenesVPS13A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13531846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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