A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676276



Internal ID9942381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8817894..8820292hg38UCSC Ensembl
chrX:8785935..8788333hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg382399
hg192399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1394e199
Supporting Variantsessv5712342, essv6021067, essv5800301, essv5758039, essv6509080, essv6156778, essv6095440, essv6259271, essv5632028, essv6406750, essv6253942, essv5412276, essv6502042, essv5730347, essv6378379, essv5938278, essv6013806, essv6541880, essv5397713, essv6101738, essv6339992, essv6297573, essv5439347, essv5888795, essv5501810
SamplesNA12842, HG00249, HG00242, NA20808, NA20507, NA12400, NA12155, HG00327, NA20798, HG00243, HG01069, HG00262, HG00323, HG00137, HG01384, HG01149, HG00373, NA18858, HG00353, HG00136, HG00237, HG00319, NA18943, NA19129, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676276
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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