A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623778



Internal ID6663945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71531993..71533303hg38UCSC Ensembl
Innerchr10:71531993..71533303hg38UCSC Ensembl
Outerchr10:71531620..71533633hg38UCSC Ensembl
chr10:73291750..73293060hg19UCSC Ensembl
Innerchr10:73291750..73293060hg19UCSC Ensembl
Outerchr10:73291377..73293390hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13860897, essv13860881, essv13860894, essv13860892, essv13860886, essv13860878, essv13860890, essv13860895, essv13860882, essv13860888, essv13860879, essv13860887, essv13860893, essv13860891, essv13860885, essv13860889, essv13860896, essv13860880, essv13860883, essv13860884
SamplesHG01926, HG02272, HG01142, HG01936, NA19761, HG01435, HG02259, HG01938, HG02292, HG01974, HG02102, HG01121, HG01921, HG01979, HG01565, HG01566, HG01345, HG01893, NA19655, HG02253
Known GenesCDH23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623778
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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