A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550453



Internal ID18404843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50035093..50035193hg38UCSC Ensembl
Outerchr13:50035081..50035207hg38UCSC Ensembl
Innerchr13:50609229..50609329hg19UCSC Ensembl
Outerchr13:50609217..50609343hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749200
Samples
Known GenesDLEU2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550453
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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