A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16065



Internal ID9961608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141313822..141460000hg38UCSC Ensembl
Innerchr2:142071391..142217569hg19UCSC Ensembl
Innerchr2:141787861..141934039hg18UCSC Ensembl
Innerchr2:141905123..142051301hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38146179
hg19146179
hg18146179
hg17146179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757835
Supporting Variants
SamplesNA18501
Known GenesLRP1B
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)essv16065
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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