A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672241



Internal ID4716575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2191936..2197746hg19UCSC Ensembl
Outerchr9:2191779..2197899hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5801910, essv6146434
SamplesHG00656, HG00702
Known GenesSMARCA2
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672241
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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