A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584716



Internal ID18770186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18561907hg38UCSC Ensembl
Innerchr17:18355392..18465221hg19UCSC Ensembl
Innerchr17:18296117..18405946hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38109830
hg19109830
hg18109830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e213
Supporting Variantsessv9838790, essv9838792, essv9838788, essv9838794, essv9838791, essv9838787, essv9838793, essv9838786
SamplesKSF005, OA053, OA074, KSM003, OA013, KSF008, OA016, 3LK
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)esv3584716
Frequency
Sample Size34
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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