A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616483



Internal ID6656679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17406370..17409971hg38UCSC Ensembl
Innerchr8:17406397..17409944hg38UCSC Ensembl
Outerchr8:17406343..17409998hg38UCSC Ensembl
chr8:17263879..17267480hg19UCSC Ensembl
Innerchr8:17263906..17267453hg19UCSC Ensembl
Outerchr8:17263852..17267507hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13128338, essv13128339
SamplesNA18748, HG01842
Known GenesMTMR7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616483
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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