A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302725



Internal ID15149673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34150634..34152568hg38UCSC Ensembl
Innerchr11:34150734..34152468hg38UCSC Ensembl
Outerchr11:34150534..34152668hg38UCSC Ensembl
chr11:34172181..34174115hg19UCSC Ensembl
Innerchr11:34172281..34174015hg19UCSC Ensembl
Outerchr11:34172081..34174215hg19UCSC Ensembl
chr11:34128757..34130691hg18UCSC Ensembl
Innerchr11:34128857..34130591hg18UCSC Ensembl
Outerchr11:34128657..34130791hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381935
hg191935
hg181935
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736914, essv7734326, essv7738301, essv7738622
SamplesNA10851, NA12043, NA11881, NA07000
Known GenesABTB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302725
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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