A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690386



Internal ID15099225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46915139..46916137hg38UCSC Ensembl
Innerchr16:46915138..46916138hg38UCSC Ensembl
Outerchr16:46914139..46917137hg38UCSC Ensembl
chr16:46949051..46950049hg19UCSC Ensembl
Innerchr16:46949050..46950050hg19UCSC Ensembl
Outerchr16:46948051..46951049hg19UCSC Ensembl
chr16:45506552..45507550hg18UCSC Ensembl
Innerchr16:45507551..45506551hg18UCSC Ensembl
Outerchr16:45505552..45508550hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443769
Supporting Variants
SamplesNA19240
Known GenesGPT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690386
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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