A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837946



Internal ID18422623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19879999..20909096hg38UCSC Ensembl
Innerchr15:20085252..21114425hg19UCSC Ensembl
Innerchr15:18345266..19379050hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381029098
hg191029174
hg181033785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584810
Supporting Variants
SamplesKSM006
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, POTEB, POTEB2
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)essv9837946
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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