A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4083



Internal ID9625622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103447737..103668404hg38UCSC Ensembl
Innerchr1:103990359..104211026hg19UCSC Ensembl
Innerchr1:103762947..104012549hg18UCSC Ensembl
Innerchr1:103702380..103923047hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38220668
hg19220668
hg18249603
hg17220668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757743
Supporting Variants
SamplesNA18635
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, RNPC3
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)essv4083
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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