A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408955



Internal ID14909230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130723..79130736hg38UCSC Ensembl
Innerchr5:79130713..79130744hg38UCSC Ensembl
Outerchr5:79130700..79130757hg38UCSC Ensembl
chr5:78426546..78426559hg19UCSC Ensembl
Innerchr5:78426536..78426567hg19UCSC Ensembl
Outerchr5:78426523..78426580hg19UCSC Ensembl
chr5:78462302..78462315hg18UCSC Ensembl
Innerchr5:78462323..78462292hg18UCSC Ensembl
Outerchr5:78462279..78462336hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676024, essv8676021, essv8676022, essv8676023, essv8676025
SamplesNA19239, NA12892, NA19238, NA12878, NA19240
Known GenesBHMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408955
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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