A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678085



Internal ID15102851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88276256..88276275hg38UCSC Ensembl
Innerchr14:88276252..88276279hg38UCSC Ensembl
Outerchr14:88276233..88276298hg38UCSC Ensembl
chr14:88742600..88742619hg19UCSC Ensembl
Innerchr14:88742596..88742623hg19UCSC Ensembl
Outerchr14:88742577..88742642hg19UCSC Ensembl
chr14:87812353..87812372hg18UCSC Ensembl
Innerchr14:87812376..87812349hg18UCSC Ensembl
Outerchr14:87812330..87812395hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433882
Supporting Variants
SamplesNA19240
Known GenesKCNK10
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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