A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652279



Internal ID15102625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14346998..14347395hg38UCSC Ensembl
Innerchr5:14346998..14347395hg38UCSC Ensembl
Outerchr5:14345970..14348635hg38UCSC Ensembl
chr5:14347107..14347504hg19UCSC Ensembl
Innerchr5:14347107..14347504hg19UCSC Ensembl
Outerchr5:14346079..14348744hg19UCSC Ensembl
chr5:14400107..14400504hg18UCSC Ensembl
Innerchr5:14400107..14400504hg18UCSC Ensembl
Outerchr5:14399079..14401744hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38398
hg19398
hg18398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366769
Supporting Variants
SamplesNA19240
Known GenesTRIO
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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