A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980511



Internal ID12635863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152119978..152670978hg38UCSC Ensembl
Innerchr2:152976492..153527492hg19UCSC Ensembl
Innerchr2:152684738..153235738hg18UCSC Ensembl
Innerchr2:152802000..153353000hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38551001
hg19551001
hg18551001
hg17551001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34659
Supporting Variants
SamplesNA19203
Known GenesFMNL2, PRPF40A, STAM2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980511
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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