A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759917



Internal ID9635376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120978042..121147010hg38UCSC Ensembl
Innerchr12:121415845..121584813hg19UCSC Ensembl
Innerchr12:119900228..120069196hg18UCSC Ensembl
Innerchr12:119878565..120047533hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38168969
hg19168969
hg18168969
hg17168969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758318
SamplesNA18952
Known GenesC12orf43, HNF1A, OASL, P2RX7
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)esv2759917
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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