A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758028



Internal ID9633487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172554329..172758360hg38UCSC Ensembl
Innerchr5:171981332..172185363hg19UCSC Ensembl
Innerchr5:171913937..172117968hg18UCSC Ensembl
Innerchr5:171913937..172117968hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38204032
hg19204032
hg18204032
hg17204032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759393
Supporting Variantsessv9944, essv15599, essv11010, essv16132, essv12593
SamplesNA19145, NA19098, NA19137, NA19100, NA19143
Known GenesNEURL1B
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)esv2758028
Frequency
Sample Size270
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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