A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671426



Internal ID9937531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148941624..148945330hg38UCSC Ensembl
Outerchr7:148941253..148945700hg38UCSC Ensembl
Innerchr7:148638716..148642422hg19UCSC Ensembl
Outerchr7:148638345..148642792hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6510375, essv5724303, essv5455824, essv6516942, essv6536605, essv6289060, essv6229651, essv6320706, essv5440004, essv5795465, essv6410495, essv6208072, essv5842794, essv6122899, essv6574946, essv6349110, essv5492480, essv5668576, essv6064433, essv5456616, essv6495784, essv5787061, essv6110751, essv5699863, essv5787664, essv5600710, essv5664864, essv5781609, essv5727523, essv5946042, essv5493958, essv6170164, essv6042724, essv6130762, essv5870404, essv6355255, essv5592490, essv5490549, essv6281029, essv6163548
SamplesHG01060, HG01173, HG01079, HG01188, HG01066, HG00737, HG01051, HG00641, HG01070, HG01167, HG01083, HG01069, HG01080, HG01067, HG01170, HG01176, HG01198, HG01048, HG01183, HG00731, HG01187, HG01171, HG01095, HG00740, HG01047, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG00734, HG01174, HG01108, HG01055, HG01082, HG01191, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671426
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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