A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757905



Internal ID9979982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173422205..173727587hg38UCSC Ensembl
Innerchr3:173139995..173445377hg19UCSC Ensembl
Innerchr3:174622689..174928071hg18UCSC Ensembl
Innerchr3:174622697..174928079hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38305383
hg19305383
hg18305383
hg17305383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759202
Supporting Variantsessv18243
SamplesNA12057
Known GenesNLGN1
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)esv2757905
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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