A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13860891



Internal ID3862707
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623778
Supporting Variants
SamplesHG02102
Known GenesCDH23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13860891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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