A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9749012



Internal ID18376572
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 StatusS
Merged Variantsesv3550265
Supporting Variants
Samples
Known GenesUSPL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9749012
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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