A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672990



Internal ID13737086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252263..51252285hg38UCSC Ensembl
Innerchr14:51252267..51252279hg38UCSC Ensembl
Outerchr14:51252245..51252301hg38UCSC Ensembl
chr14:51718981..51719003hg19UCSC Ensembl
Innerchr14:51718985..51718997hg19UCSC Ensembl
Outerchr14:51718963..51719019hg19UCSC Ensembl
chr14:50788731..50788753hg18UCSC Ensembl
Innerchr14:50788747..50788735hg18UCSC Ensembl
Outerchr14:50788713..50788769hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371321
Supporting Variants
SamplesNA12892
Known GenesTMX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672990
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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