A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550265



Internal ID18404655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30622821..30623628hg38UCSC Ensembl
Outerchr13:30622793..30623634hg38UCSC Ensembl
Innerchr13:31196958..31197765hg19UCSC Ensembl
Outerchr13:31196930..31197771hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749012
Samples
Known GenesUSPL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550265
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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