A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689987



Internal ID15096802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32178330..32180128hg38UCSC Ensembl
Innerchr16:32179128..32179330hg38UCSC Ensembl
Outerchr16:32177330..32181128hg38UCSC Ensembl
chr16:32189651..32191449hg19UCSC Ensembl
Innerchr16:32190449..32190651hg19UCSC Ensembl
Outerchr16:32188651..32192449hg19UCSC Ensembl
chr16:32097152..32098950hg18UCSC Ensembl
Innerchr16:32098152..32097950hg18UCSC Ensembl
Outerchr16:32096152..32099950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450497
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689987
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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