A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979033



Internal ID12632833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..20994912hg38UCSC Ensembl
Innerchr15:20186386..21200241hg19UCSC Ensembl
Innerchr15:18446400..19464900hg18UCSC Ensembl
Innerchr15:18446400..19464900hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381013780
hg191013856
hg181018501
hg171018501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35160
Supporting Variants
SamplesNA12864
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979033
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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