A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13710152



Internal ID3711968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18325115..18325934hg38UCSC Ensembl
Innerchr10:18325127..18325922hg38UCSC Ensembl
Outerchr10:18325103..18325946hg38UCSC Ensembl
chr10:18614044..18614863hg19UCSC Ensembl
Innerchr10:18614056..18614851hg19UCSC Ensembl
Outerchr10:18614032..18614875hg19UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622504
Supporting Variants
SamplesNA19834
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13710152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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