A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757844



Internal ID9633303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186468053..186715820hg38UCSC Ensembl
Innerchr2:187332780..187580547hg19UCSC Ensembl
Innerchr2:187041025..187288792hg18UCSC Ensembl
Innerchr2:187158286..187406053hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38247768
hg19247768
hg18247768
hg17247768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759107
Supporting Variantsessv24810
SamplesNA10860
Known GenesFAM171B, ITGAV, ZC3H15
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)esv2757844
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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