A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757870



Internal ID9633329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50161045..50333946hg38UCSC Ensembl
Innerchr3:50198478..50371377hg19UCSC Ensembl
Innerchr3:50173482..50346381hg18UCSC Ensembl
Innerchr3:50173482..50346381hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38172902
hg19172900
hg18172900
hg17172900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759148
Supporting Variantsessv14068, essv2335, essv17775
SamplesNA10831, NA18861, NA18940
Known GenesGNAI2, GNAT1, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, RASSF1, SEMA3B, SEMA3F, SLC38A3, TUSC2
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)esv2757870
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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