A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664453



Internal ID9583872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32254128..32254234hg38UCSC Ensembl
Outerchr12:32254091..32254284hg38UCSC Ensembl
Innerchr12:32407062..32407168hg19UCSC Ensembl
Outerchr12:32407025..32407218hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6029593, essv5943847, essv5775108, essv6226529, essv6531989, essv5402994, essv6169583, essv5672251, essv5800155, essv5581292, essv5529264, essv5415042, essv5857857, essv6282164, essv5422896, essv5729395, essv5878088, essv5932107, essv5676974, essv5971881, essv6234678, essv5887841, essv5883091, essv6074284, essv6594469, essv6316335, essv5710100, essv5668377, essv5556290, essv5439706, essv6215699, essv6552877, essv6266961, essv5487050, essv5421440, essv5489058, essv5769131, essv6065170, essv6584181, essv5557809, essv6470062, essv6205073, essv6164292, essv6184982, essv5541487, essv6475637, essv5441586, essv5439739, essv6091130, essv5607793, essv5725208, essv5936952, essv5952523, essv6310566, essv6295105
SamplesHG00536, NA18621, HG00524, NA18599, HG01066, HG00654, HG00693, HG01350, HG00589, HG00501, NA18597, HG00702, HG00330, HG00334, HG00537, HG00590, NA18611, HG00512, HG01067, HG00422, HG00705, HG00309, HG00427, HG00323, HG00419, NA18638, HG00464, HG01353, HG00443, HG00557, HG00428, HG00653, NA18637, HG00500, HG00275, NA18534, HG00708, HG00273, HG00651, HG00479, HG00331, HG00140, HG01334, HG00463, NA18632, HG00353, HG00662, HG00620, HG00614, HG00478, HG00421, HG00698, NA18623, HG01437, HG00437
Known GenesBICD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664453
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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