A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671635



Internal ID9591054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62450945..62451477hg38UCSC Ensembl
chr11:62218417..62218949hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6249033, essv6567450, essv5640562, essv6122966, essv5565834, essv5928669, essv6209324, essv6462639, essv6417485, essv6023125, essv6359856, essv6013340, essv5670457, essv6173497, essv6286837, essv5700145, essv6238289, essv5404046, essv5490592, essv6423787, essv5848009, essv5736430, essv5420661, essv5554168, essv5976856, essv6548800, essv6559040, essv5486481, essv5591390, essv6026213, essv6502485, essv6127274, essv5542165, essv5979901
SamplesHG01519, NA12286, HG00328, HG00160, NA20775, HG01082, HG01204, HG00256, NA20532, NA20761, NA12843, NA12282, HG01061, HG01124, NA12761, NA19908, HG00150, NA19774, HG00258, HG00114, HG00306, HG00159, HG00108, NA20512, HG01069, NA11892, HG00277, NA20828, HG00120, NA20534, NA20507, HG00320, HG00271, HG00126
Known GenesAHNAK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671635
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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