A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310519



Internal ID14810784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105439174..105439174hg38UCSC Ensembl
Outerchr14:105439174..105439174hg38UCSC Ensembl
Innerchr14:105905511..105905511hg19UCSC Ensembl
Outerchr14:105905511..105905511hg19UCSC Ensembl
Innerchr14:104976556..104976556hg18UCSC Ensembl
Outerchr14:104976556..104976556hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843473
SamplesNA12878
Known GenesMTA1
MethodSequencing
AnalysisCortex reference assisted and de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310519
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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