A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616797



Internal ID6656993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30854185..30856966hg38UCSC Ensembl
Innerchr8:30854185..30856966hg38UCSC Ensembl
Outerchr8:30853953..30857216hg38UCSC Ensembl
chr8:30711701..30714482hg19UCSC Ensembl
Innerchr8:30711701..30714482hg19UCSC Ensembl
Outerchr8:30711469..30714732hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382782
hg192782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13156397, essv13156394, essv13156396, essv13156392, essv13156393, essv13156398, essv13156395
SamplesHG01173, HG01064, HG03479, NA19027, NA19042, HG03391, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616797
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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