A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8964989



Internal ID14407806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36173578..36173600hg38UCSC Ensembl
Innerchr14:36173579..36173596hg38UCSC Ensembl
Outerchr14:36173557..36173618hg38UCSC Ensembl
chr14:36642784..36642806hg19UCSC Ensembl
Innerchr14:36642785..36642802hg19UCSC Ensembl
Outerchr14:36642763..36642824hg19UCSC Ensembl
chr14:35712535..35712557hg18UCSC Ensembl
Innerchr14:35712553..35712536hg18UCSC Ensembl
Outerchr14:35712514..35712575hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389017
Supporting Variants
SamplesNA18907
Known GenesPTCSC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8964989
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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