A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5726437



Internal ID9061341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112800200..112802309hg38UCSC Ensembl
Outerchr13:112800043..112802462hg38UCSC Ensembl
Innerchr13:113454514..113456623hg19UCSC Ensembl
Outerchr13:113454357..113456776hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382420
hg192420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656956
Supporting Variants
SamplesHG00707
Known GenesATP11A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5726437
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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