A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983752



Internal ID12629187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22063285hg38UCSC Ensembl
Innerchr15:20167086..22351236hg19UCSC Ensembl
Innerchr15:18427100..19852600hg18UCSC Ensembl
Innerchr15:18427100..19852600hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382101453
hg192184151
hg181425501
hg171425501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34805
Supporting Variants
SamplesBEC_621
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983752
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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