A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843246



Internal ID15039518
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 StatusS
Merged Variantsesv3310097
Supporting Variants
SamplesNA19239
Known GenesLOC283585
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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