A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14685717



Internal ID3717938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32560371..32563408hg38UCSC Ensembl
chr13:33134508..33137545hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631723
Supporting Variants
SamplesHG03343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14685717
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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