A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983890



Internal ID12630664
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 Variantsesv34382
Supporting Variants
SamplesBEC_73
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)essv6983890
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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