A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584530



Internal ID18423314
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 StatusM
Merged Variants
Supporting Variantsessv9837849, essv9837850
SamplesKSM003, OA016
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)esv3584530
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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