A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597905



Internal ID1063904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102250680..102274585hg38UCSC Ensembl
chr2:102867140..102891045hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3823906
hg1923906
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591785
Supporting Variants
SamplesHG00689
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597905
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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