A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591654



Internal ID6978982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94775323..94856297hg38UCSC Ensembl
chr2:95441068..95522042hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3880975
hg1980975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10587502, essv10587503, essv10587505, essv10587504, essv10587501
SamplesHG03895, HG03861, HG03850, HG04023, HG04171
Known GenesANKRD20A8P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591654
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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