A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2048



Internal ID9618647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18927303..19288734hg38UCSC Ensembl
Innerchr17:18830616..19192047hg19UCSC Ensembl
Innerchr17:18771341..19132640hg18UCSC Ensembl
Innerchr17:18771341..19132640hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38361432
hg19361432
hg18361300
hg17361300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758444
Supporting Variants
SamplesNA18949
Known GenesEPN2, EPN2-IT1, FAM83G, GRAP, GRAPL, PRPSAP2, SLC5A10
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)essv2048
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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