A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680914



Internal ID6282215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30411539..30412795hg38UCSC Ensembl
Innerchr13:30411540..30412795hg38UCSC Ensembl
Outerchr13:30411539..30412796hg38UCSC Ensembl
chr13:30985676..30986932hg19UCSC Ensembl
Innerchr13:30985677..30986932hg19UCSC Ensembl
Outerchr13:30985676..30986933hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381257
hg191257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631674
Supporting Variants
SamplesNA19818
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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