A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374409



Internal ID15221384
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 StatusM
Merged Variants
Supporting Variantsessv8952923, essv8952921, essv8952925, essv8952922, essv8952924
SamplesNA18916, NA18909, NA19093, NA19102, NA18505
Known GenesMAPK8IP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374409
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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