A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689922



Internal ID15096457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29381230..29383128hg38UCSC Ensembl
Innerchr16:29382128..29382230hg38UCSC Ensembl
Outerchr16:29380230..29384128hg38UCSC Ensembl
chr16:29392551..29394449hg19UCSC Ensembl
Innerchr16:29393449..29393551hg19UCSC Ensembl
Outerchr16:29391551..29395449hg19UCSC Ensembl
chr16:29300052..29301950hg18UCSC Ensembl
Innerchr16:29301052..29300950hg18UCSC Ensembl
Outerchr16:29299052..29302950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448625
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689922
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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