A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673642



Internal ID9939747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:92598717..92654623hg38UCSC Ensembl
OuterchrX:92598346..92654993hg38UCSC Ensembl
InnerchrX:91853716..91909622hg19UCSC Ensembl
OuterchrX:91853345..91909992hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg3856648
hg1956648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6229928, essv5769008, essv5619233, essv5431480, essv6177086, essv5525901, essv6301731, essv6055074, essv5972702, essv6409689, essv5837905, essv6345722, essv6464256, essv6221020, essv6255732, essv5650871, essv5633764, essv5929814, essv5887028, essv6405021, essv6498418, essv5431252, essv6223343, essv5733645, essv6278014, essv6506898, essv5764696, essv6046944, essv6299888, essv5809081, essv6334997, essv5535338, essv5646621, essv6133004, essv6361501, essv5987823, essv6247572, essv5507305, essv5502155, essv6332769, essv6481344, essv5830807, essv6534307, essv6437549, essv6061606, essv5830437, essv5572861, essv6484114, essv6586478, essv5684014
SamplesNA19204, NA18507, NA18917, NA18486, NA18504, NA19190, NA19098, NA18510, NA19107, NA19171, NA18519, NA19119, NA18923, NA19198, NA19131, NA19138, NA18498, NA19130, NA18874, NA18868, NA19137, NA19207, NA19189, NA18520, NA19209, NA18908, NA18867, NA19200, NA18934, NA19152, 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)esv2673642
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer