A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18309



Internal ID9616235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6762910..6943646hg38UCSC Ensembl
Innerchr18:6762909..6943645hg19UCSC Ensembl
Innerchr18:6752909..6933645hg18UCSC Ensembl
Innerchr18:6752909..6933645hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38180737
hg19180737
hg18180737
hg17180737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758469
Supporting Variants
SamplesNA10846
Known GenesARHGAP28, LAMA1, LINC00668
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv18309
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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