A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14687076



Internal ID6822908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33921186..33964189hg38UCSC Ensembl
chr13:34495323..34538326hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3843004
hg1943004
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631746
Supporting Variants
SamplesNA20900
Known GenesRFC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14687076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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