A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982763



Internal ID12628828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..22289785hg38UCSC Ensembl
Innerchr15:20186386..22577736hg19UCSC Ensembl
Innerchr15:18446400..20079100hg18UCSC Ensembl
Innerchr15:18446400..20079100hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382308653
hg192391351
hg181632701
hg171632701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751360
Supporting Variants
SamplesBEC_589
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982763
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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