A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757716



Internal ID9633175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1263940..1384492hg38UCSC Ensembl
Innerchr1:1199320..1319872hg19UCSC Ensembl
Innerchr1:1189183..1309735hg18UCSC Ensembl
Innerchr1:1239243..1359795hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38120553
hg19120553
hg18120553
hg17120553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758912
Supporting Variantsessv64
SamplesNA18991
Known GenesACAP3, AURKAIP1, CPSF3L, DVL1, GLTPD1, MIR6726, MIR6727, MIR6808, MXRA8, PUSL1, SCNN1D, TAS1R3, UBE2J2
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)esv2757716
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