A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399038



Internal ID15246001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75791209..75791224hg38UCSC Ensembl
Innerchr16:75791183..75791250hg38UCSC Ensembl
Outerchr16:75791168..75791265hg38UCSC Ensembl
chr16:75825107..75825122hg19UCSC Ensembl
Innerchr16:75825081..75825148hg19UCSC Ensembl
Outerchr16:75825066..75825163hg19UCSC Ensembl
chr16:74382608..74382623hg18UCSC Ensembl
Innerchr16:74382649..74382582hg18UCSC Ensembl
Outerchr16:74382567..74382664hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865933
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399038
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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