A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979438



Internal ID12633493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22650812..23081146hg38UCSC Ensembl
Innerchr15:22791922..23222284hg19UCSC Ensembl
Innerchr15:20343286..20773725hg18UCSC Ensembl
Innerchr15:20343286..20773725hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38430335
hg19430363
hg18430440
hg17430440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34463
Supporting Variants
SamplesNA18555
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979438
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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