A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757837



Internal ID9979914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152768405..153006843hg38UCSC Ensembl
Innerchr2:153624919..153863357hg19UCSC Ensembl
Innerchr2:153333165..153571603hg18UCSC Ensembl
Innerchr2:153450427..153688865hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38238439
hg19238439
hg18238439
hg17238439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759097
Supporting Variantsessv6669, essv798
SamplesNA18956, NA18608
Known Genes
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)esv2757837
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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