A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8698794



Internal ID13332203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105439175..105439175hg38UCSC Ensembl
Innerchr14:105439174..105439176hg38UCSC Ensembl
Outerchr14:105439085..105439216hg38UCSC Ensembl
chr14:105905512..105905512hg19UCSC Ensembl
Innerchr14:105905511..105905513hg19UCSC Ensembl
Outerchr14:105905422..105905553hg19UCSC Ensembl
chr14:104976557..104976557hg18UCSC Ensembl
Innerchr14:104976558..104976556hg18UCSC Ensembl
Outerchr14:104976467..104976598hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3413895
Supporting Variants
SamplesNA12878
Known GenesMTA1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8698794
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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