A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757872



Internal ID9979949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60796210..61033331hg38UCSC Ensembl
Innerchr3:60781943..61019003hg19UCSC Ensembl
Innerchr3:60756983..60994043hg18UCSC Ensembl
Innerchr3:60756983..60994043hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38237122
hg19237061
hg18237061
hg17237061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759152
Supporting Variantsessv24815, essv5509, essv24600
SamplesNA11992, NA18632, NA10860
Known GenesFHIT
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)esv2757872
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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