A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675821



Internal ID9595240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106748749..106751543hg38UCSC Ensembl
chr11:106619475..106622269hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382795
hg192795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6419361, essv6095278, essv6295677, essv6272356
SamplesHG01365, HG00339, NA11994, NA12144
Known GenesGUCY1A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675821
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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