A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664644



Internal ID9930749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:23994626..24036232hg38UCSC Ensembl
Outerchr1:23994255..24036602hg38UCSC Ensembl
Innerchr1:24321116..24362722hg19UCSC Ensembl
Outerchr1:24320745..24363092hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3842348
hg1942348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5406255, essv5897000, essv6595708, essv5976176, essv5586584, essv6570082, essv5700305, essv5940786, essv5925653, essv5557158, essv6338953, essv5923798, essv5477683, essv6297184, essv6453339, essv6439575, essv5805601, essv5536010, essv6132678, essv6476962, essv6194609, essv6127531, essv5499575, essv6573974, essv6024427, essv5964709, essv6038186, essv6014316, essv6404520, essv6064513, essv6568064, essv6522409, essv6344657, essv6210221, essv6245513, essv6135323, essv6013408, essv6461631, essv5606643, essv5741434, essv5897276, essv5823947, essv5600832, essv6113943, essv6397744, essv6495667, essv5789365, essv6503308, essv6235489, essv6451010, essv6058151, essv5512455, essv5754038
SamplesHG01060, HG01173, HG01098, HG01052, HG01079, HG01188, HG01066, HG00640, HG00737, HG01051, HG00641, HG01070, HG01167, HG01168, HG00736, HG01083, HG01069, HG01080, HG01067, HG01170, HG01072, HG01176, HG01198, HG00637, HG01048, HG01183, HG00731, HG01187, HG01171, HG00732, HG01095, HG00740, HG01047, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG01190, HG00734, HG00638, HG01174, HG01108, HG01055, HG01082, HG01097, HG00554, HG01191, HG01061, HG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664644
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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