A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8837117



Internal ID15106884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69204072..69204072hg38UCSC Ensembl
Innerchr5:69204071..69204073hg38UCSC Ensembl
Outerchr5:69204012..69204122hg38UCSC Ensembl
chr5:68499899..68499899hg19UCSC Ensembl
Innerchr5:68499898..68499900hg19UCSC Ensembl
Outerchr5:68499839..68499949hg19UCSC Ensembl
chr5:68535655..68535655hg18UCSC Ensembl
Innerchr5:68535656..68535654hg18UCSC Ensembl
Outerchr5:68535595..68535705hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3452028
Supporting Variants
SamplesNA19240
Known GenesCENPH
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8837117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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