A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7601



Internal ID9629531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46314456..47199967hg38UCSC Ensembl
Innerchr17:44391822..45277333hg19UCSC Ensembl
Innerchr17:41747597..42632332hg18UCSC Ensembl
Innerchr17:41747597..42632332hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38885512
hg19885512
hg18884736
hg17884736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA18545
Known GenesARL17A, ARL17B, CDC27, GOSR2, LRRC37A, LRRC37A2, MIR5089, NSF, NSFP1, RPRML, WNT3, WNT9B
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)essv7601
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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