A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv64e213



Internal ID22786082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157671716..158086766hg38UCSC Ensembl
chr7:157464408..157879458hg19UCSC Ensembl
chr7:157157169..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 Variants
Supporting Variantsesv3584558, esv3584559
SamplesOA074, OA001
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)dgv64e213
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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