A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14683267



Internal ID5489841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31369521..31371862hg38UCSC Ensembl
Innerchr13:31369521..31371862hg38UCSC Ensembl
Outerchr13:31369313..31372007hg38UCSC Ensembl
chr13:31943658..31945999hg19UCSC Ensembl
Innerchr13:31943658..31945999hg19UCSC Ensembl
Outerchr13:31943450..31946144hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382342
hg192342
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631697
Supporting Variants
SamplesNA18981
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14683267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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