A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7309



Internal ID9964532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234737579..234849568hg38UCSC Ensembl
Innerchr1:234873326..234985315hg19UCSC Ensembl
Innerchr1:232939949..233051938hg18UCSC Ensembl
Innerchr1:231180061..231292050hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38111990
hg19111990
hg18111990
hg17111990
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757776
Supporting Variants
SamplesNA18570
Known Genes
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)essv7309
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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