A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411470



Internal ID15258430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252272..51252291hg38UCSC Ensembl
Innerchr14:51252268..51252295hg38UCSC Ensembl
Outerchr14:51252249..51252314hg38UCSC Ensembl
chr14:51718990..51719009hg19UCSC Ensembl
Innerchr14:51718986..51719013hg19UCSC Ensembl
Outerchr14:51718967..51719032hg19UCSC Ensembl
chr14:50788740..50788759hg18UCSC Ensembl
Innerchr14:50788763..50788736hg18UCSC Ensembl
Outerchr14:50788717..50788782hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9665614, essv9665592, essv9665625, essv9665636, essv9665603
SamplesNA07346, NA12812, NA07347, NA12872, NA11894
Known GenesTMX1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411470
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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