A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757804



Internal ID9979881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66101922..66272733hg38UCSC Ensembl
Innerchr2:66329056..66499865hg19UCSC Ensembl
Innerchr2:66182560..66353369hg18UCSC Ensembl
Innerchr2:66240707..66411516hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38170812
hg19170810
hg18170810
hg17170810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759057
Supporting Variantsessv20895
SamplesNA12801
Known Genes
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)esv2757804
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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