A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2070



Internal ID9618892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20383982..20684229hg38UCSC Ensembl
Innerchr17:20287295..20587542hg19UCSC Ensembl
Innerchr17:20227887..20528134hg18UCSC Ensembl
Innerchr17:20227887..20528134hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38300248
hg19300248
hg18300248
hg17300248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758445
Supporting Variants
SamplesNA18949
Known GenesCCDC144CP, CDRT15L2, KRT16P3, LGALS9B
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)essv2070
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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