A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676540



Internal ID9942645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32636039..32680345hg38UCSC Ensembl
Outerchr6:32635668..32680715hg38UCSC Ensembl
Innerchr6:32603816..32648122hg19UCSC Ensembl
Outerchr6:32603445..32648492hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3845048
hg1945048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5808902, essv6385871, essv5901219, essv5842986, essv6353236, essv5423576, essv5492356, essv6503512, essv5582103, essv6056312, essv6217982, essv5421615, essv6131447, essv5472761, essv5404771, essv6083672, essv6549435, essv5791765, essv5742671, essv6061162, essv6312426, essv6319463, essv6419680, essv5899646, essv6205130, essv6353390, essv5800413, essv6177313, essv6188523, essv6322123, essv6517997, essv6130546, essv6166167, essv6110166, essv5933361
SamplesNA19777, NA19746, NA19660, NA19762, NA19728, NA19678, NA19723, NA19782, NA19681, NA19720, NA19651, NA19731, NA19789, NA19657, NA19788, NA19776, NA19654, NA19655, NA19750, NA19682, NA19756, NA19675, NA19729, NA19652, NA19732, NA19786, NA19783, NA19759, NA19785, NA19770, NA19726, NA19780, NA19755, NA19758, NA19676
Known GenesHLA-DQA1, HLA-DQB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676540
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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