A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678026



Internal ID14755793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24325210..24325229hg38UCSC Ensembl
Innerchr14:24325206..24325233hg38UCSC Ensembl
Outerchr14:24325187..24325252hg38UCSC Ensembl
chr14:24794416..24794435hg19UCSC Ensembl
Innerchr14:24794412..24794439hg19UCSC Ensembl
Outerchr14:24794393..24794458hg19UCSC Ensembl
chr14:23864256..23864275hg18UCSC Ensembl
Innerchr14:23864279..23864252hg18UCSC Ensembl
Outerchr14:23864233..23864298hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362635
Supporting Variants
SamplesNA19240
Known GenesADCY4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678026
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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