A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757795



Internal ID9633254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46305673..46647012hg38UCSC Ensembl
Innerchr2:46532812..46874151hg19UCSC Ensembl
Innerchr2:46386316..46727655hg18UCSC Ensembl
Innerchr2:46444463..46785802hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38341340
hg19341340
hg18341340
hg17341340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759046
Supporting Variantsessv20783
SamplesNA12146
Known GenesATP6V1E2, CRIPT, EPAS1, LOC100506142, LOC101805491, PIGF, RHOQ, TMEM247
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)esv2757795
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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