A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550142



Internal ID18751218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:21168399..21172268hg38UCSC Ensembl
Outerchr13:21168263..21172358hg38UCSC Ensembl
Innerchr13:21742538..21746407hg19UCSC Ensembl
Outerchr13:21742402..21746497hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg384096
hg194096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748889
Samples
Known GenesSKA3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550142
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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