A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6194



Internal ID9627967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100165921..100470475hg38UCSC Ensembl
Innerchr5:99501625..99806179hg19UCSC Ensembl
Innerchr5:99529524..99834078hg18UCSC Ensembl
Innerchr5:99529524..99834078hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38304555
hg19304555
hg18304555
hg17304555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758006
Supporting Variants
SamplesNA18532
Known GenesLOC100133050
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)essv6194
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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