A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362367



Internal ID14862628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99460870..99460870hg38UCSC Ensembl
Innerchr12:99460869..99460871hg38UCSC Ensembl
Outerchr12:99460820..99460920hg38UCSC Ensembl
chr12:99854648..99854648hg19UCSC Ensembl
Innerchr12:99854647..99854649hg19UCSC Ensembl
Outerchr12:99854598..99854698hg19UCSC Ensembl
chr12:98378779..98378779hg18UCSC Ensembl
Innerchr12:98378780..98378778hg18UCSC Ensembl
Outerchr12:98378729..98378829hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740765
SamplesNA19240
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362367
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer