A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597344



Internal ID6398596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101513046..101525171hg38UCSC Ensembl
chr2:102129508..102141633hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3812126
hg1912126
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591771
Supporting Variants
SamplesNA20346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597344
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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