A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23527



Internal ID9622033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143001388..143244090hg38UCSC Ensembl
Innerchr3:142720230..142962932hg19UCSC Ensembl
Innerchr3:144202920..144445622hg18UCSC Ensembl
Innerchr3:144202928..144445630hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38242703
hg19242703
hg18242703
hg17242703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757893
Supporting Variants
SamplesNA06993
Known GenesCHST2, LOC100289361, U2SURP
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)essv23527
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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