A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11023431



Internal ID3686933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:59278212..59320506hg38UCSC Ensembl
chr3:59263938..59306232hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3842295
hg1942295
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596268
Supporting Variants
SamplesHG03294
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11023431
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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