A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14685757



Internal ID5508991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32602931..32604990hg38UCSC Ensembl
Innerchr13:32602958..32604963hg38UCSC Ensembl
Outerchr13:32602904..32605017hg38UCSC Ensembl
chr13:33177068..33179127hg19UCSC Ensembl
Innerchr13:33177095..33179100hg19UCSC Ensembl
Outerchr13:33177041..33179154hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg382060
hg192060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631725
Supporting Variants
SamplesNA18988
Known GenesPDS5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14685757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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