A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547674



Internal ID18402064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43888081..43888345hg38UCSC Ensembl
Outerchr11:43888014..43888393hg38UCSC Ensembl
Innerchr11:43909631..43909895hg19UCSC Ensembl
Outerchr11:43909564..43909943hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746421
Samples
Known GenesALKBH3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547674
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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