A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980456



Internal ID12982458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..20994922hg38UCSC Ensembl
Innerchr15:20422587..21200251hg19UCSC Ensembl
Innerchr15:18682601..19464910hg18UCSC Ensembl
Innerchr15:18682601..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38777589
hg19777665
hg18782310
hg17782310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35163
Supporting Variants
SamplesNA19194
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980456
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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