A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990233



Internal ID12635210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20646292..20994922hg38UCSC Ensembl
Innerchr15:20851594..21200251hg19UCSC Ensembl
Innerchr15:19111608..19464910hg18UCSC Ensembl
Innerchr15:19111608..19464910hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38348631
hg19348658
hg18353303
hg17353303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34501
Supporting Variants
SamplesNA19092
Known GenesCT60, CXADRP2, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990233
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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