A curated catalogue of human genomic structural variation




Variant Details

Variant: essv131



Internal ID9610447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43912940..44017192hg38UCSC Ensembl
Innerchr7:43952539..44056791hg19UCSC Ensembl
Innerchr7:43919064..44023316hg18UCSC Ensembl
Innerchr7:43725779..43830031hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38104253
hg19104253
hg18104253
hg17104253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758113
Supporting Variants
SamplesNA18968
Known GenesPOLR2J4, SPDYE1, UBE2D4, URGCP
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)essv131
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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