A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34463



Internal ID12643816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22650812..23095232hg38UCSC Ensembl
Innerchr15:22777836..23222284hg19UCSC Ensembl
Innerchr15:20329200..20773725hg18UCSC Ensembl
Innerchr15:20329200..20773725hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38444421
hg19444449
hg18444526
hg17444526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986868, essv6979439, essv6979437, essv6979438
SamplesNA18555
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34463
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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