A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389017



Internal ID15235984
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 StatusM
Merged Variants
Supporting Variantsessv8964989, essv8964990, essv8964994, essv8964983, essv8964984, essv8964991, essv8964985, essv8964993, essv8964988, essv8964995, essv8964987, essv8964986
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)esv3389017
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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