A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1359



Internal ID9610991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132194841..132385543hg38UCSC Ensembl
Innerchr2:132952414..133143116hg19UCSC Ensembl
Innerchr2:132668884..132859586hg18UCSC Ensembl
Innerchr2:132786146..132976848hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38190703
hg19190703
hg18190703
hg17190703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA19007
Known GenesANKRD30BL, MIR663B
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)essv1359
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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