A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14693752



Internal ID763978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36923192..36926599hg38UCSC Ensembl
Innerchr13:36923192..36926599hg38UCSC Ensembl
Outerchr13:36922927..36926870hg38UCSC Ensembl
chr13:37497329..37500736hg19UCSC Ensembl
Innerchr13:37497329..37500736hg19UCSC Ensembl
Outerchr13:37497064..37501007hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631791
Supporting Variants
SamplesHG00361
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14693752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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