A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8966962



Internal ID13304884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76828676..76828708hg38UCSC Ensembl
Innerchr14:76828690..76828692hg38UCSC Ensembl
Outerchr14:76828662..76828722hg38UCSC Ensembl
chr14:77295019..77295051hg19UCSC Ensembl
Innerchr14:77295033..77295035hg19UCSC Ensembl
Outerchr14:77295005..77295065hg19UCSC Ensembl
chr14:76364772..76364804hg18UCSC Ensembl
Innerchr14:76364786..76364788hg18UCSC Ensembl
Outerchr14:76364758..76364818hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341226
Supporting Variants
SamplesNA12004
Known GenesC14orf166B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8966962
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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