A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22651



Internal ID9621060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185391971..185553542hg38UCSC Ensembl
Innerchr4:186313125..186474696hg19UCSC Ensembl
Innerchr4:186550119..186711690hg18UCSC Ensembl
Innerchr4:186688274..186849845hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38161572
hg19161572
hg18161572
hg17161572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757971
Supporting Variants
SamplesNA12752
Known GenesANKRD37, C4orf47, CCDC110, PDLIM3, UFSP2
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)essv22651
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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