A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11893



Internal ID9609106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177191316..177375443hg38UCSC Ensembl
Innerchr5:176618317..176802444hg19UCSC Ensembl
Innerchr5:176550923..176735050hg18UCSC Ensembl
Innerchr5:176550923..176735050hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38184128
hg19184128
hg18184128
hg17184128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758030
Supporting Variants
SamplesNA19221
Known GenesLMAN2, MXD3, NSD1, PRELID1, RAB24, RGS14
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)essv11893
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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