A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980288



Internal ID12631455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..22216247hg38UCSC Ensembl
Innerchr15:20191741..22504198hg19UCSC Ensembl
Innerchr15:18451755..20005562hg18UCSC Ensembl
Innerchr15:18451755..20005562hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382229760
hg192312458
hg181553808
hg171553808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34665
Supporting Variants
SamplesNA07019
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)essv6980288
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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