A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757794



Internal ID9979871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40320807..40506636hg38UCSC Ensembl
Innerchr2:40547947..40733776hg19UCSC Ensembl
Innerchr2:40401451..40587280hg18UCSC Ensembl
Innerchr2:40459598..40645427hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38185830
hg19185830
hg18185830
hg17185830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759044
Supporting Variantsessv19955
SamplesNA12813
Known GenesSLC8A1
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)esv2757794
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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