A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689923



Internal ID15055653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29381230..29388928hg38UCSC Ensembl
Innerchr16:29382230..29387928hg38UCSC Ensembl
Outerchr16:29380230..29389928hg38UCSC Ensembl
chr16:29392551..29400249hg19UCSC Ensembl
Innerchr16:29393551..29399249hg19UCSC Ensembl
Outerchr16:29391551..29401249hg19UCSC Ensembl
chr16:29300052..29307750hg18UCSC Ensembl
Innerchr16:29301052..29306750hg18UCSC Ensembl
Outerchr16:29299052..29308750hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387699
hg197699
hg187699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3349051
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689923
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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