A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2941567



Internal ID10614547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85514317..85540317hg38UCSC Ensembl
Innerchr1:85980000..86006000hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7211134
SamplesHuRef
Known GenesDDAH1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2941567
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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