A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617302



Internal ID7004188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56577720..56579486hg38UCSC Ensembl
Innerchr8:56577727..56579479hg38UCSC Ensembl
Outerchr8:56577713..56579493hg38UCSC Ensembl
chr8:57490279..57492045hg19UCSC Ensembl
Innerchr8:57490286..57492038hg19UCSC Ensembl
Outerchr8:57490272..57492052hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381767
hg191767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204541, essv13204540, essv13204539
SamplesNA19909, NA20332, HG03279
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617302
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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