A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837932



Internal ID18769736
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 StatusS
Merged Variantsesv3584943
Supporting Variants
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)essv9837932
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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