A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15004



Internal ID9612564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107833421..108362198hg38UCSC Ensembl
Innerchr2:108449877..108978654hg19UCSC Ensembl
Innerchr2:107816309..108345086hg18UCSC Ensembl
Innerchr2:107908395..108437172hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38528778
hg19528778
hg18528778
hg17528778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757823
Supporting Variants
SamplesNA18870
Known GenesRGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3
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)essv15004
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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