A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984679



Internal ID12636634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22181985hg38UCSC Ensembl
Innerchr15:20167086..22469936hg19UCSC Ensembl
Innerchr15:18427100..19971300hg18UCSC Ensembl
Innerchr15:18427100..19971300hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382220153
hg192302851
hg181544201
hg171544201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751302
Supporting Variants
SamplesSPC_165
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984679
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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