A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10946972



Internal ID6504192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21209902..21310304hg38UCSC Ensembl
chr3:21251394..21351796hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38100403
hg19100403
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595501
Supporting Variants
SamplesNA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10946972
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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