A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757782



Internal ID9979859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167949..929902hg38UCSC Ensembl
Innerchr2:167949..925588hg19UCSC Ensembl
Innerchr2:157949..915588hg18UCSC Ensembl
Innerchr2:157949..915588hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38761954
hg19757640
hg18757640
hg17757640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759016
Supporting Variantsessv2780, essv5376
SamplesNA18563, NA18987
Known GenesACP1, FAM150B, LINC01115, SH3YL1, TMEM18
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)esv2757782
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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