A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757808



Internal ID9633267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75462279..75785697hg38UCSC Ensembl
Innerchr2:75689405..76012823hg19UCSC Ensembl
Innerchr2:75542913..75866331hg18UCSC Ensembl
Innerchr2:75601060..75924478hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38323419
hg19323419
hg18323419
hg17323419
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759063
Supporting Variantsessv4119, essv772, essv12684
SamplesNA18956, NA18555, NA18500
Known GenesEVA1A, GCFC2, MRPL19
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)esv2757808
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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