A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981079



Internal ID12626083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..20866706hg38UCSC Ensembl
Innerchr15:20422587..21072035hg19UCSC Ensembl
Innerchr15:18682601..19336725hg18UCSC Ensembl
Innerchr15:18682601..19336725hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38649373
hg19649449
hg18654125
hg17654125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751309
Supporting Variants
SamplesBEC_350
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981079
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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