A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758689



Internal ID9634148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40592048..40693852hg38UCSC Ensembl
Innerchr17:38748300..38850104hg19UCSC Ensembl
Innerchr17:36001826..36103630hg18UCSC Ensembl
Innerchr17:36001826..36103630hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38101805
hg19101805
hg18101805
hg17101805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758454
SamplesNA12801
Known GenesKRT222, SMARCE1
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)esv2758689
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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