A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14686165



Internal ID1934002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33358371..33360729hg38UCSC Ensembl
Innerchr13:33358393..33360708hg38UCSC Ensembl
Outerchr13:33358350..33360751hg38UCSC Ensembl
chr13:33932508..33934866hg19UCSC Ensembl
Innerchr13:33932530..33934845hg19UCSC Ensembl
Outerchr13:33932487..33934888hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg382359
hg192359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631736
Supporting Variants
SamplesHG01801
Known GenesSTARD13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14686165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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