A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2227



Internal ID9620636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20383982..20578748hg38UCSC Ensembl
Innerchr17:20287295..20482061hg19UCSC Ensembl
Innerchr17:20227887..20422653hg18UCSC Ensembl
Innerchr17:20227887..20422653hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38194767
hg19194767
hg18194767
hg17194767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758445
Supporting Variants
SamplesNA18960
Known GenesCCDC144CP, 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)essv2227
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer