A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667406



Internal ID9586825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19211271..19718844hg38UCSC Ensembl
chr13:19785411..20292984hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38507574
hg19507574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv334e199
Supporting Variantsessv5543411, essv6192963, essv5700139, essv6521250, essv6190180
SamplesHG00449, HG00589, HG00692, HG00284, NA19682
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667406
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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