A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3250052



Internal ID10923032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:24696424..24696761hg38UCSC Ensembl
Outerchr13:25270562..25270899hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7519619
SamplesHuRef
Known GenesATP12A
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3250052
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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