A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556026



Internal ID18410416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:10967500..10968041hg38UCSC Ensembl
Outerchr19:10967498..10968043hg38UCSC Ensembl
Innerchr19:11078176..11078717hg19UCSC Ensembl
Outerchr19:11078174..11078719hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754773
Samples
Known GenesSMARCA4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556026
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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