A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660079



Internal ID2893166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52470622..52489503hg38UCSC Ensembl
Outerchr12:52470465..52489656hg38UCSC Ensembl
Innerchr12:52864406..52883287hg19UCSC Ensembl
Outerchr12:52864249..52883440hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3819192
hg1919192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395695, essv6500804, essv6435111, essv5625713, essv6364937, essv5898358, essv5764727, essv6062792, essv5966255, essv5630779, essv6497824, essv5805935
SamplesNA18861, NA18595, NA20527, NA20503, NA18874, NA19060, NA18542, NA18541, NA19083, NA18486, NA18999, NA19065
Known GenesKRT6A, KRT6C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660079
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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