A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675842



Internal ID9941947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:92384417..92498923hg38UCSC Ensembl
OuterchrX:92384046..92499293hg38UCSC Ensembl
InnerchrX:91639416..91753922hg19UCSC Ensembl
OuterchrX:91639045..91754292hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38115248
hg19115248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6198893, essv5429228, essv6374101, essv6417884, essv6560840, essv5650221, essv6576168, essv6436244, essv6578368, essv6438464, essv5891796, essv6332460, essv5957423, essv5559727, essv6314480, essv6033383, essv6306189, essv5697134, essv6390273, essv6578252, essv6126543, essv6559131, essv5408722, essv6511548, essv6493553, essv6258108, essv6050306, essv5745066, essv5519901, essv5780864, essv5832439, essv5608958, essv5611568, essv5753887, essv5848747, essv6330318, essv5634344, essv5630570, essv6093346, essv5656463, essv5824511, essv5900719, essv5913735, essv6382683, essv5886060, essv6272377, essv6036699, essv5502781, essv5503074, essv6436123
SamplesNA19204, NA18507, NA18917, NA18486, NA18504, NA19190, NA19098, NA18510, NA19107, NA19171, NA18519, NA19119, NA18923, NA19198, NA19131, NA19138, NA18498, NA19130, NA18874, NA18868, NA19137, NA19207, NA19159, NA19189, NA18520, NA19209, NA18908, NA18867, NA19200, NA18934, NA19236, NA18516, NA18910, NA18871, NA18856, NA18853, NA18523, NA19160, NA19108, NA19256, NA19144, NA18501, NA19248, NA19223, NA18873, NA19213, NA19129, NA18522, NA18487, NA19153
Known GenesPCDH11X
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675842
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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