A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24423



Internal ID9959175
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 gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757760
Supporting Variants
SamplesNA12707
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)essv24423
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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