A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838762



Internal ID18769615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18458372..18550123hg38UCSC Ensembl
Innerchr17:18361686..18453437hg19UCSC Ensembl
Innerchr17:18302411..18394162hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3891752
hg1991752
hg1891752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584717
Supporting Variants
SamplesOA018
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
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)essv9838762
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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