A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360866



Internal ID14861128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106968779..106968779hg38UCSC Ensembl
Innerchr11:106968778..106968780hg38UCSC Ensembl
Outerchr11:106968729..106968829hg38UCSC Ensembl
chr11:106839505..106839505hg19UCSC Ensembl
Innerchr11:106839504..106839506hg19UCSC Ensembl
Outerchr11:106839455..106839555hg19UCSC Ensembl
chr11:106344715..106344715hg18UCSC Ensembl
Innerchr11:106344716..106344714hg18UCSC Ensembl
Outerchr11:106344665..106344765hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701267
SamplesNA12878
Known GenesGUCY1A2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360866
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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