A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978030



Internal ID12631831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..22037966hg38UCSC Ensembl
Innerchr15:20191741..22325917hg19UCSC Ensembl
Innerchr15:18451755..19827281hg18UCSC Ensembl
Innerchr15:18451755..19827281hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382051479
hg192134177
hg181375527
hg171375527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34448
Supporting Variants
SamplesNA10859
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)essv6978030
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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