A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670683



Internal ID15057365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59846701..59847072hg38UCSC Ensembl
Innerchr14:59846874..59846899hg38UCSC Ensembl
Outerchr14:59846528..59847245hg38UCSC Ensembl
chr14:60313419..60313790hg19UCSC Ensembl
Innerchr14:60313592..60313617hg19UCSC Ensembl
Outerchr14:60313246..60313963hg19UCSC Ensembl
chr14:59383172..59383543hg18UCSC Ensembl
Innerchr14:59383345..59383370hg18UCSC Ensembl
Outerchr14:59382999..59383716hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38372
hg19372
hg18372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363514
Supporting Variants
SamplesNA19239
Known GenesRTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670683
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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