A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584919



Internal ID18423703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30156392..30515739hg38UCSC Ensembl
Innerchr15:30448595..30807942hg19UCSC Ensembl
Innerchr15:28235887..28595234hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38359348
hg19359348
hg18359348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837899
SamplesOA016
Known GenesCHRFAM7A, DKFZP434L187, LOC101059918
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)esv3584919
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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