A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838845



Internal ID18768966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:65795238..65798302hg38UCSC Ensembl
Innerchr18:63462474..63465538hg19UCSC Ensembl
Innerchr18:61613454..61616518hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg383065
hg193065
hg183065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584946
Supporting Variants
Samples8S
Known GenesCDH7
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)essv9838845
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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