A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1128



Internal ID9608425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103549694..103909380hg38UCSC Ensembl
Innerchr1:104092316..104452002hg19UCSC Ensembl
Innerchr1:103893839..104253525hg18UCSC Ensembl
Innerchr1:103804337..104164023hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38359687
hg19359687
hg18359687
hg17359687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757743
Supporting Variants
SamplesNA18964
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)essv1128
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer