A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6287452



Internal ID8883128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:109781769..109785275hg38UCSC Ensembl
Outerchr13:109781398..109785645hg38UCSC Ensembl
Innerchr13:110434116..110437622hg19UCSC Ensembl
Outerchr13:110433745..110437992hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658062
Supporting Variants
SamplesHG00334
Known GenesIRS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6287452
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