A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418286



Internal ID15265244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76516727..76516734hg38UCSC Ensembl
Innerchr14:76516718..76516743hg38UCSC Ensembl
Outerchr14:76516711..76516750hg38UCSC Ensembl
chr14:76983070..76983077hg19UCSC Ensembl
Innerchr14:76983061..76983086hg19UCSC Ensembl
Outerchr14:76983054..76983093hg19UCSC Ensembl
chr14:76052823..76052830hg18UCSC Ensembl
Innerchr14:76052839..76052814hg18UCSC Ensembl
Outerchr14:76052807..76052846hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865767
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418286
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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