A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8642195



Internal ID15149008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4797619..4797619hg38UCSC Ensembl
Innerchr16:4797618..4797620hg38UCSC Ensembl
Outerchr16:4797579..4797639hg38UCSC Ensembl
chr16:4847620..4847620hg19UCSC Ensembl
Innerchr16:4847619..4847621hg19UCSC Ensembl
Outerchr16:4847580..4847640hg19UCSC Ensembl
chr16:4787621..4787621hg18UCSC Ensembl
Innerchr16:4787622..4787620hg18UCSC Ensembl
Outerchr16:4787581..4787641hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3379528
Supporting Variants
Samples
Known GenesROGDI
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8642195
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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