A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547587



Internal ID18401977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:35140933..35141032hg38UCSC Ensembl
Outerchr11:35140929..35141034hg38UCSC Ensembl
Innerchr11:35162480..35162579hg19UCSC Ensembl
Outerchr11:35162476..35162581hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746334
Samples
Known GenesCD44
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547587
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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