A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978963



Internal ID12632724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..22256018hg38UCSC Ensembl
Innerchr15:20191741..22543969hg19UCSC Ensembl
Innerchr15:18451755..20045333hg18UCSC Ensembl
Innerchr15:18451755..20045333hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382269531
hg192352229
hg181593579
hg171593579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34367
Supporting Variants
SamplesNA12812
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)essv6978963
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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