A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584594



Internal ID18423378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109690352..109692006hg38UCSC Ensembl
Innerchr1:110232974..110234628hg19UCSC Ensembl
Innerchr1:110034497..110036151hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381655
hg191655
hg181655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838323, essv9838290, essv9838312, essv9838301, essv9838334
Samples2RB, B4, 1WS, B10, 3LK
Known GenesGSTM1
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)esv3584594
Frequency
Sample Size34
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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