A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688247



Internal ID14732886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2131246..2132144hg38UCSC Ensembl
Innerchr11:2131245..2132145hg38UCSC Ensembl
Outerchr11:2130246..2133144hg38UCSC Ensembl
chr11:2152476..2153374hg19UCSC Ensembl
Innerchr11:2152475..2153375hg19UCSC Ensembl
Outerchr11:2151476..2154374hg19UCSC Ensembl
chr11:2109052..2109950hg18UCSC Ensembl
Innerchr11:2109951..2109051hg18UCSC Ensembl
Outerchr11:2108052..2110950hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334293
Supporting Variants
SamplesNA19240
Known GenesIGF2, INS-IGF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688247
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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