A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759083



Internal ID9634542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111142206..111989360hg38UCSC Ensembl
Innerchr2:111899783..112746937hg19UCSC Ensembl
Innerchr2:111616254..112463408hg18UCSC Ensembl
Innerchr2:111616014..112463168hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38847155
hg19847155
hg18847155
hg17847155
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757825
SamplesNA18870, NA12043, NA19173, NA19209, NA18500, NA18965, NA12044, NA18912, NA07034, NA18854, NA18563, NA07048, NA12761, NA11831, NA12239, NA19129, NA19094, NA12146, NA18552, NA18872, NA19132, NA19205, NA18853, NA18913, NA19202, NA07000
Known GenesANAPC1, BCL2L11, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2
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)esv2759083
Frequency
Sample Size270
Observed Gain10
Observed Loss16
Observed Complex0
Frequencyn/a


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