A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550441



Internal ID18751517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48959365..48961864hg38UCSC Ensembl
Outerchr13:48959169..48962393hg38UCSC Ensembl
Innerchr13:49533501..49536000hg19UCSC Ensembl
Outerchr13:49533305..49536529hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383225
hg193225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv106e215
Supporting Variantsessv9749188
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550441
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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