A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8965973



Internal ID13536082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252273..51252284hg38UCSC Ensembl
Innerchr14:51252263..51252291hg38UCSC Ensembl
Outerchr14:51252252..51252302hg38UCSC Ensembl
chr14:51718991..51719002hg19UCSC Ensembl
Innerchr14:51718981..51719009hg19UCSC Ensembl
Outerchr14:51718970..51719020hg19UCSC Ensembl
chr14:50788741..50788752hg18UCSC Ensembl
Innerchr14:50788759..50788731hg18UCSC Ensembl
Outerchr14:50788720..50788770hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436254
Supporting Variants
SamplesNA12751
Known GenesTMX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8965973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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