A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591650



Internal ID6978978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94697293..94767885hg38UCSC Ensembl
chr2:95363020..95433630hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3870593
hg1970611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10587479, essv10587477, essv10587480, essv10587481, essv10587478, essv10587482
SamplesHG03895, HG03861, HG03850, HG04023, HG03863, HG04171
Known GenesANKRD20A8P, FAM95A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591650
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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