A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12489



Internal ID9977848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169812865..169916045hg38UCSC Ensembl
Innerchr1:169782006..169885186hg19UCSC Ensembl
Innerchr1:168048630..168151810hg18UCSC Ensembl
Innerchr1:166513664..166616844hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38103181
hg19103181
hg18103181
hg17103181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757760
Supporting Variants
SamplesNA19207
Known GenesC1orf112, SCYL3
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)essv12489
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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