A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584505



Internal ID18769975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:159889156..159930826hg38UCSC Ensembl
Innerchr3:159606945..159648615hg19UCSC Ensembl
Innerchr3:161089639..161131309hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3841671
hg1941671
hg1841671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838626
SamplesKSM003
Known GenesIL12A-AS1, IQCJ-SCHIP1, SCHIP1
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)esv3584505
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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