A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689924



Internal ID15022197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29382230..29388928hg38UCSC Ensembl
Innerchr16:29383230..29387928hg38UCSC Ensembl
Outerchr16:29381230..29389928hg38UCSC Ensembl
chr16:29393551..29400249hg19UCSC Ensembl
Innerchr16:29394551..29399249hg19UCSC Ensembl
Outerchr16:29392551..29401249hg19UCSC Ensembl
chr16:29301052..29307750hg18UCSC Ensembl
Innerchr16:29302052..29306750hg18UCSC Ensembl
Outerchr16:29300052..29308750hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386699
hg196699
hg186699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3412537
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689924
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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