A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672948



Internal ID9939053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104861819..104862107hg38UCSC Ensembl
Outerchr14:104861750..104862174hg38UCSC Ensembl
Innerchr14:105328156..105328444hg19UCSC Ensembl
Outerchr14:105328087..105328511hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6307935, essv5922680, essv6353076, essv5984076, essv6181275, essv6469453, essv6298711, essv5820526, essv6537705, essv6063384, essv5999138, essv6585126, essv6316207, essv5899891, essv6561750, essv6392213
SamplesNA19359, NA19374, NA19373, NA19762, HG01492, HG00369, HG00281, NA18867, NA18933, HG01390, NA19461, NA19318, NA19712, NA19439, HG00342, NA20322
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672948
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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