A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310097



Internal ID15157048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86909208..86909209hg38UCSC Ensembl
Innerchr14:86909192..86909225hg38UCSC Ensembl
Outerchr14:86909191..86909226hg38UCSC Ensembl
chr14:87375552..87375553hg19UCSC Ensembl
Innerchr14:87375536..87375569hg19UCSC Ensembl
Outerchr14:87375535..87375570hg19UCSC Ensembl
chr14:86445305..86445306hg18UCSC Ensembl
Innerchr14:86445322..86445289hg18UCSC Ensembl
Outerchr14:86445288..86445323hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843246, essv7841611
SamplesNA19239, NA19240
Known GenesLOC283585
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310097
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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