A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688459



Internal ID15081604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60747103..60748001hg38UCSC Ensembl
Innerchr11:60747102..60748002hg38UCSC Ensembl
Outerchr11:60746103..60749001hg38UCSC Ensembl
chr11:60514576..60515474hg19UCSC Ensembl
Innerchr11:60514575..60515475hg19UCSC Ensembl
Outerchr11:60513576..60516474hg19UCSC Ensembl
chr11:60271152..60272050hg18UCSC Ensembl
Innerchr11:60272051..60271151hg18UCSC Ensembl
Outerchr11:60270152..60273050hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340824
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688459
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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