A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14682697



Internal ID821313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31006697..31009509hg38UCSC Ensembl
Innerchr13:31006731..31009475hg38UCSC Ensembl
Outerchr13:31006663..31009543hg38UCSC Ensembl
chr13:31580834..31583646hg19UCSC Ensembl
Innerchr13:31580868..31583612hg19UCSC Ensembl
Outerchr13:31580800..31583680hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382813
hg192813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631688
Supporting Variants
SamplesHG00407
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14682697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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