A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7747476



Internal ID13350084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76828688..76828689hg38UCSC Ensembl
Innerchr14:76828650..76828727hg38UCSC Ensembl
Outerchr14:76828649..76828728hg38UCSC Ensembl
chr14:77295031..77295032hg19UCSC Ensembl
Innerchr14:77294993..77295070hg19UCSC Ensembl
Outerchr14:77294992..77295071hg19UCSC Ensembl
chr14:76364784..76364785hg18UCSC Ensembl
Innerchr14:76364823..76364746hg18UCSC Ensembl
Outerchr14:76364745..76364824hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303605
Supporting Variants
SamplesNA12044
Known GenesC14orf166B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7747476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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