A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674567



Internal ID9593986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120964240..120966620hg38UCSC Ensembl
chr11:120834949..120837329hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382381
hg192381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5474120, essv6266002
SamplesNA19675, NA19679
Known GenesGRIK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674567
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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