A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8952925



Internal ID14438121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45893257..45893268hg38UCSC Ensembl
Innerchr11:45893254..45893271hg38UCSC Ensembl
Outerchr11:45893243..45893282hg38UCSC Ensembl
chr11:45914808..45914819hg19UCSC Ensembl
Innerchr11:45914805..45914822hg19UCSC Ensembl
Outerchr11:45914794..45914833hg19UCSC Ensembl
chr11:45871384..45871395hg18UCSC Ensembl
Innerchr11:45871398..45871381hg18UCSC Ensembl
Outerchr11:45871370..45871409hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38155
hg19155
hg18155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374409
Supporting Variants
SamplesNA18916
Known GenesMAPK8IP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8952925
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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