A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979437



Internal ID12633494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22657337..23095232hg38UCSC Ensembl
Innerchr15:22777836..23215759hg19UCSC Ensembl
Innerchr15:20329200..20767200hg18UCSC Ensembl
Innerchr15:20329200..20767200hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38437896
hg19437924
hg18438001
hg17438001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979437
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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