A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20624



Internal ID9618808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:77349703..77507184hg38UCSC Ensembl
Innerchr3:77398854..77556335hg19UCSC Ensembl
Innerchr3:77481544..77639025hg18UCSC Ensembl
Innerchr3:77481544..77639025hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38157482
hg19157482
hg18157482
hg17157482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757878
Supporting Variants
SamplesNA07056
Known GenesROBO2
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)essv20624
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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