A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627742



Internal ID6667889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111692187..111693174hg38UCSC Ensembl
Innerchr11:111692238..111693123hg38UCSC Ensembl
Outerchr11:111692136..111693225hg38UCSC Ensembl
chr11:111562911..111563898hg19UCSC Ensembl
Innerchr11:111562962..111563847hg19UCSC Ensembl
Outerchr11:111562860..111563949hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14287030, essv14287029, essv14287031, essv14287028, essv14287027
SamplesHG00613, HG01817, HG00446, HG01861, NA18627
Known GenesSIK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627742
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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