A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556612



Internal ID18411002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54052289..54057076hg38UCSC Ensembl
Outerchr19:54051747..54057746hg38UCSC Ensembl
Innerchr19:54555543..54560330hg19UCSC Ensembl
Outerchr19:54555001..54561000hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755359
Samples
Known GenesVSTM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556612
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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