A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556072



Internal ID18410462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14621573..14623228hg38UCSC Ensembl
Outerchr19:14621315..14623461hg38UCSC Ensembl
Innerchr19:14732385..14734040hg19UCSC Ensembl
Outerchr19:14732127..14734273hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754819
Samples
Known GenesEMR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556072
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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