A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987702



Internal ID12636989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..22133785hg38UCSC Ensembl
Innerchr15:20186386..22421736hg19UCSC Ensembl
Innerchr15:18446400..19923100hg18UCSC Ensembl
Innerchr15:18446400..19923100hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382152653
hg192235351
hg181476701
hg171476701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751299
Supporting Variants
SamplesSPC_19
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987702
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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