A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979439



Internal ID12633496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22650837..23081132hg38UCSC Ensembl
Innerchr15:22791936..23222259hg19UCSC Ensembl
Innerchr15:20343300..20773700hg18UCSC Ensembl
Innerchr15:20343300..20773700hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38430296
hg19430324
hg18430401
hg17430401
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)essv6979439
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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