A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843473



Internal ID13275928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105439174..105439174hg38UCSC Ensembl
chr14:105905511..105905511hg19UCSC Ensembl
chr14:104976556..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 StatusS
Merged Variantsesv3310519
Supporting Variants
SamplesNA12878
Known GenesMTA1
MethodSequencing
AnalysisCortex reference assisted and de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843473
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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