A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843507



Internal ID15084249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:54708881..54709610hg38UCSC Ensembl
Outerchr14:54708881..54709610hg38UCSC Ensembl
Innerchr14:55175599..55176328hg19UCSC Ensembl
Outerchr14:55175599..55176328hg19UCSC Ensembl
Innerchr14:54246078..54245349hg18UCSC Ensembl
Outerchr14:54245349..54246078hg18UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38539
hg19539
hg18539
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310503
Supporting Variants
SamplesNA19240
Known GenesSAMD4A
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843507
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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