A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831



Internal ID9628675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103549694..103794978hg38UCSC Ensembl
Innerchr1:104092316..104337600hg19UCSC Ensembl
Innerchr1:103893839..104139123hg18UCSC Ensembl
Innerchr1:103804337..104049621hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38245285
hg19245285
hg18245285
hg17245285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757743
Supporting Variants
SamplesNA18579
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, 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)essv6831
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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