A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758440



Internal ID9633899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:718346..1158111hg38UCSC Ensembl
Innerchr17:621586..1061405hg19UCSC Ensembl
Innerchr17:568336..1008155hg18UCSC Ensembl
Innerchr17:568336..1008155hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38439766
hg19439820
hg18439820
hg17439820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758673
Supporting Variantsessv277, essv3392
SamplesNA18945, NA18978
Known GenesABR, DBIL5P, FAM57A, GEMIN4, GLOD4, MIR3183, NXN, RNMTL1, TIMM22
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)esv2758440
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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