A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13710176



Internal ID3711992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18381575..18382387hg38UCSC Ensembl
Innerchr10:18381687..18382314hg38UCSC Ensembl
Outerchr10:18381361..18382601hg38UCSC Ensembl
chr10:18670504..18671316hg19UCSC Ensembl
Innerchr10:18670616..18671243hg19UCSC Ensembl
Outerchr10:18670290..18671530hg19UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622505
Supporting Variants
SamplesNA18917
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13710176
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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