A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584558



Internal ID18770028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157671716..158086766hg38UCSC Ensembl
Innerchr7:157464408..157879458hg19UCSC Ensembl
Innerchr7:157157169..157572219hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38415051
hg19415051
hg18415051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64e213
Supporting Variantsessv9837912
SamplesOA074
Known GenesLOC100506585, PTPRN2
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)esv3584558
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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