A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667065



Internal ID9933170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:89764117..89810823hg38UCSC Ensembl
OuterchrX:89763746..89811193hg38UCSC Ensembl
InnerchrX:89019116..89065822hg19UCSC Ensembl
OuterchrX:89018745..89066192hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3847448
hg1947448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6286479, essv6432374, essv5710502, essv5617619, essv5669698, essv5853104, essv6302075, essv6349840, essv6251076, essv5869320, essv6003373, essv5746244, essv5480414, essv6034910, essv5420074, essv5397473, essv6328522, essv6437129, essv6431218, essv6311651, essv5402577, essv5938325, essv6002608, essv6110078, essv5608961, essv6131478, essv5474768, essv6222929, essv5440854, essv5996178, essv6537361, essv5672459, essv5643255, essv6115400, essv6036813, essv5617551, essv6063412, essv5745859, essv6303384, essv6049463, essv5485351, essv6187632, essv6555706, essv5597826, essv5510555, essv6049044, essv5435519, essv5550455, essv6193872, essv5498977, essv5495020, essv5861268, essv5575963, essv6034137, essv5607039
SamplesNA19204, NA18507, NA18917, NA18486, NA18504, NA19190, NA19098, NA18510, NA19107, NA19171, NA18519, NA19201, NA19119, NA18923, NA19198, NA19131, NA19138, NA18498, NA19130, NA18874, NA18868, NA19137, NA19207, NA19159, NA19189, NA18520, NA19209, NA18908, NA18867, NA19200, NA18934, NA19152, NA19236, NA18516, NA18910, NA18871, NA18499, NA18856, NA18853, NA19257, NA18523, NA19160, NA19108, NA19256, NA19144, NA18501, NA19248, NA19223, NA19093, NA18873, NA19213, NA19129, NA18522, NA18487, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667065
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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