A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758952



Internal ID9981097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99894099..100032786hg38UCSC Ensembl
Innerchr1:100359655..100498342hg19UCSC Ensembl
Innerchr1:100132243..100270930hg18UCSC Ensembl
Innerchr1:100071676..100210363hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38138688
hg19138688
hg18138688
hg17138688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757742
SamplesNA12864
Known GenesAGL, SLC35A3
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)esv2758952
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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