A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759349



Internal ID9981494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:72603495..72777154hg38UCSC Ensembl
Innerchr5:71899322..72072981hg19UCSC Ensembl
Innerchr5:71935078..72108737hg18UCSC Ensembl
Innerchr5:71935078..72108737hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38173660
hg19173660
hg18173660
hg17173660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757999
SamplesNA18624
Known GenesLOC102477328
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)esv2759349
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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