A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584943



Internal ID18770413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6873355..7434331hg38UCSC Ensembl
Innerchr18:6873354..7434329hg19UCSC Ensembl
Innerchr18:6863354..7424329hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38560977
hg19560976
hg18560976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837932
SamplesOA059
Known GenesARHGAP28, LAMA1, LINC00668, LRRC30
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)esv3584943
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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