A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309595



Internal ID15156546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60525905..60525906hg38UCSC Ensembl
Innerchr11:60525888..60525923hg38UCSC Ensembl
Outerchr11:60525887..60525924hg38UCSC Ensembl
chr11:60293378..60293379hg19UCSC Ensembl
Innerchr11:60293361..60293396hg19UCSC Ensembl
Outerchr11:60293360..60293397hg19UCSC Ensembl
chr11:60049954..60049955hg18UCSC Ensembl
Innerchr11:60049972..60049937hg18UCSC Ensembl
Outerchr11:60049936..60049973hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842048, essv7843046
SamplesNA19239, NA19240
Known GenesMS4A13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309595
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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