A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550450



Internal ID18751526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49938985..49940585hg38UCSC Ensembl
Outerchr13:49938946..49940788hg38UCSC Ensembl
Innerchr13:50513121..50514721hg19UCSC Ensembl
Outerchr13:50513082..50514924hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381843
hg191843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749197
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550450
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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