A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17620



Internal ID9615470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103447737..103794978hg38UCSC Ensembl
Innerchr1:103990359..104337600hg19UCSC Ensembl
Innerchr1:103762947..104139123hg18UCSC Ensembl
Innerchr1:103702380..104049621hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38347242
hg19347242
hg18376177
hg17347242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757743
Supporting Variants
SamplesNA12753
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)essv17620
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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