A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838627



Internal ID18768921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43259..85111hg38UCSC Ensembl
Innerchr7:43259..85111hg19UCSC Ensembl
Innerchr7:138342..180194hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3841853
hg1941853
hg1841853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584541
Supporting Variants
Samples2RB
Known Genes
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)essv9838627
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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