A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584920



Internal ID18423704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30252720..30462844hg38UCSC Ensembl
Innerchr15:30544923..30755047hg19UCSC Ensembl
Innerchr15:28332215..28542339hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38210125
hg19210125
hg18210125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837829
SamplesOA053
Known GenesCHRFAM7A, 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)esv3584920
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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