A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657413



Internal ID9923518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:76920571..76923702hg38UCSC Ensembl
chr8:77832807..77835938hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383132
hg193132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5571149, essv6516540, essv6533229, essv6010807, essv5730828, essv6132171, essv5862132, essv5726331
SamplesHG01060, HG01462, NA19909, NA19704, NA18516, NA18907, NA19439, NA18873
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657413
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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