A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306165



Internal ID15153113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36173581..36173582hg38UCSC Ensembl
Innerchr14:36173549..36173614hg38UCSC Ensembl
Outerchr14:36173548..36173615hg38UCSC Ensembl
chr14:36642787..36642788hg19UCSC Ensembl
Innerchr14:36642755..36642820hg19UCSC Ensembl
Outerchr14:36642754..36642821hg19UCSC Ensembl
chr14:35712538..35712539hg18UCSC Ensembl
Innerchr14:35712571..35712506hg18UCSC Ensembl
Outerchr14:35712505..35712572hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7757182, essv7741859, essv7752553, essv7740555, essv7761189, essv7750932, essv7763070, essv7748041, essv7744744, essv7762621, essv7756772, essv7742267
SamplesNA12045, NA18504, NA19190, NA18940, NA18519, NA18572, NA18948, NA18907, NA18576, NA07037, NA18609, NA18562
Known GenesPTCSC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306165
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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