A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690385



Internal ID15057870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46915039..46916037hg38UCSC Ensembl
Innerchr16:46915038..46916038hg38UCSC Ensembl
Outerchr16:46914039..46917037hg38UCSC Ensembl
chr16:46948951..46949949hg19UCSC Ensembl
Innerchr16:46948950..46949950hg19UCSC Ensembl
Outerchr16:46947951..46950949hg19UCSC Ensembl
chr16:45506452..45507450hg18UCSC Ensembl
Innerchr16:45507451..45506451hg18UCSC Ensembl
Outerchr16:45505452..45508450hg18UCSC 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 Variantsesv3334382
Supporting Variants
SamplesNA19239
Known GenesGPT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690385
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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