A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563121



Internal ID18764197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193514436..193514671hg38UCSC Ensembl
Outerchr3:193514427..193514675hg38UCSC Ensembl
Innerchr3:193232225..193232460hg19UCSC Ensembl
Outerchr3:193232216..193232464hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761868
Samples
Known GenesATP13A4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563121
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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