A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14678730



Internal ID2193717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28855966..28870928hg38UCSC Ensembl
chr13:29430103..29445065hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3814963
hg1914963
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631643
Supporting Variants
SamplesHG01977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14678730
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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