A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2780



Internal ID9624174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167949..344228hg38UCSC Ensembl
Innerchr2:167949..344228hg19UCSC Ensembl
Innerchr2:157949..334228hg18UCSC Ensembl
Innerchr2:157949..334228hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38176280
hg19176280
hg18176280
hg17176280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757782
Supporting Variants
SamplesNA18987
Known GenesACP1, FAM150B, SH3YL1
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)essv2780
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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