A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664641



Internal ID9930746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132610869..132611298hg38UCSC Ensembl
chrX:131744897..131745326hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6287680, essv6317174, essv6165949, essv5482817, essv6105389, essv6232194, essv5872310, essv6024380, essv6537762, essv6595360, essv5812888, essv6250806, essv5425187, essv5433631, essv6514714, essv6068196, essv5860645, essv5852011, essv6294791, essv6010068, essv5472557, essv5597916, essv5709708, essv6526548, essv5935199, essv5918725, essv5933582, essv6336693, essv6465215, essv6090377, essv6388382
SamplesHG01098, HG01462, HG01465, NA19777, NA19684, NA07346, NA19728, NA19678, HG01354, NA19720, NA19731, HG01176, HG01183, NA19657, HG00732, NA18956, NA19717, HG01498, NA19788, NA20299, NA19750, NA19761, NA19747, HG01375, NA20544, HG01342, NA19716, NA19755, HG00554, HG01191, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664641
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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