A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12662



Internal ID9609961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215426547..215585798hg38UCSC Ensembl
Innerchr2:216291270..216450521hg19UCSC Ensembl
Innerchr2:215999515..216158766hg18UCSC Ensembl
Innerchr2:216116776..216276027hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38159252
hg19159252
hg18159252
hg17159252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757847
Supporting Variants
SamplesNA18500
Known GenesFN1
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)essv12662
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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