A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837849



Internal ID18422888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69571467..69822308hg38UCSC Ensembl
Innerchr5:68867294..69118135hg19UCSC Ensembl
Innerchr5:68903050..69153891hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38250842
hg19250842
hg18250842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584530
Supporting Variants
SamplesOA016
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, LOC100272216, SMA4
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)essv9837849
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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