A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161240



Internal ID7905954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17080898..17216627hg38UCSC Ensembl
Innerchr1:17407393..17543122hg19UCSC Ensembl
Innerchr1:17279980..17415709hg18UCSC Ensembl
Innerchr1:17152699..17288428hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38135730
hg19135730
hg18135730
hg17135730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422314
Supporting Variants
SamplesND01703
Known GenesPADI1, PADI2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161240
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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