A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746074



Internal ID18373634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11854047..11854865hg38UCSC Ensembl
Outerchr11:11853863..11855056hg38UCSC Ensembl
Innerchr11:11875594..11876412hg19UCSC Ensembl
Outerchr11:11875410..11876603hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3547327
Supporting Variants
Samples
Known GenesUSP47
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746074
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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