A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623777



Internal ID6663944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71483769..71484996hg38UCSC Ensembl
Innerchr10:71483769..71484996hg38UCSC Ensembl
Outerchr10:71483437..71485305hg38UCSC Ensembl
chr10:73243526..73244753hg19UCSC Ensembl
Innerchr10:73243526..73244753hg19UCSC Ensembl
Outerchr10:73243194..73245062hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13860863, essv13860866, essv13860875, essv13860857, essv13860861, essv13860860, essv13860862, essv13860859, essv13860864, essv13860873, essv13860868, essv13860869, essv13860871, essv13860870, essv13860872, essv13860876, essv13860874, essv13860865, essv13860858, essv13860867, essv13860877
SamplesNA20891, NA20864, HG03679, HG03796, NA20890, HG03736, NA20889, HG03744, NA21122, NA19908, NA20867, NA21141, HG04173, HG03634, NA20851, HG04025, NA21117, HG04216, HG04134, HG03882, HG04153
Known GenesCDH23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623777
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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