A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758456



Internal ID9633915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45544583..45738657hg38UCSC Ensembl
Innerchr17:43621949..43816023hg19UCSC Ensembl
Innerchr17:40977732..41171794hg18UCSC Ensembl
Innerchr17:40977732..41171794hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38194075
hg19194075
hg18194063
hg17194063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758691
Supporting Variantsessv23067, essv21461
SamplesNA12717, NA12812
Known GenesCRHR1, CRHR1-IT1, LOC644172, MGC57346
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)esv2758456
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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