A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591461



Internal ID6978789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82157364..82176010hg38UCSC Ensembl
chr2:82384488..82403134hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3818647
hg1918647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10561594
SamplesNA07051
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591461
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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