A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671081



Internal ID9590500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1747317..1765023hg38UCSC Ensembl
Outerchr19:1746946..1765393hg38UCSC Ensembl
Innerchr19:1747316..1765022hg19UCSC Ensembl
Outerchr19:1746945..1765392hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3818448
hg1918448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6239441, essv5671531, essv5513558, essv6204203, essv6191995, essv5723186, essv6342142, essv6124406, essv5699579, essv6313496, essv6165456, essv5596787, essv5920078, essv6046027, essv6368032, essv5520761, essv6026766, essv6596195, essv6431305, essv5462164, essv6106206, essv6494319, essv5464477, essv5891155, essv6184640, essv5589467, essv5664809, essv5979379, essv6160629, essv5761447
SamplesHG01060, HG01098, HG01052, HG01188, HG00737, HG01051, HG01070, HG01168, HG01083, HG01069, HG01170, HG01072, HG01176, HG01198, HG01183, HG01187, HG01095, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG00638, HG01108, HG01082, HG01191, HG01061
Known GenesONECUT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671081
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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