A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13710220



Internal ID3712036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18528835..18529859hg38UCSC Ensembl
Innerchr10:18528835..18529859hg38UCSC Ensembl
Outerchr10:18528503..18530166hg38UCSC Ensembl
chr10:18817764..18818788hg19UCSC Ensembl
Innerchr10:18817764..18818788hg19UCSC Ensembl
Outerchr10:18817432..18819095hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622508
Supporting Variants
SamplesHG01390
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13710220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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