A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593468



Internal ID6980792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177684859..177715374hg38UCSC Ensembl
chr2:178549587..178580102hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3830516
hg1930516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10775555, essv10775548, essv10775550, essv10775546, essv10775557, essv10775558, essv10775551, essv10775552, essv10775556, essv10775559, essv10775545, essv10775554, essv10775553, essv10775544, essv10775543, essv10775542, essv10775547, essv10775549
SamplesHG03773, HG03753, HG04002, HG03772, HG03808, NA21129, HG03784, NA21122, HG00543, HG04173, HG04063, HG03006, NA21095, HG04090, HG03681, HG04014, HG04098, HG03894
Known GenesPDE11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593468
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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