A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757946



Internal ID9633405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102859548..103136164hg38UCSC Ensembl
Innerchr4:103780705..104057321hg19UCSC Ensembl
Innerchr4:103999805..104276770hg18UCSC Ensembl
Innerchr4:104137960..104414925hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38276617
hg19276617
hg18276966
hg17276966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759270
Supporting Variantsessv12179, essv24673, essv3884, essv824, essv22104, essv10866
SamplesNA11829, NA10857, NA18973, NA18871, NA19101, NA18994
Known GenesBDH2, CENPE, CISD2, SLC9B1, SLC9B2, UBE2D3
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)esv2757946
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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