A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757803



Internal ID9979880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64025871..64312422hg38UCSC Ensembl
Innerchr2:64253005..64539556hg19UCSC Ensembl
Innerchr2:64106509..64393060hg18UCSC Ensembl
Innerchr2:64164656..64451207hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38286552
hg19286552
hg18286552
hg17286552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759055
Supporting Variantsessv12611, essv11901
SamplesNA18502, NA18500
Known GenesLINC00309, PELI1
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)esv2757803
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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