A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14685745



Internal ID4687561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32564696..32566253hg38UCSC Ensembl
Innerchr13:32564696..32566253hg38UCSC Ensembl
Outerchr13:32564620..32566607hg38UCSC Ensembl
chr13:33138833..33140390hg19UCSC Ensembl
Innerchr13:33138833..33140390hg19UCSC Ensembl
Outerchr13:33138757..33140744hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg381558
hg191558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631724
Supporting Variants
SamplesNA18853
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14685745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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