A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664013



Internal ID9930118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:59867678..59919436hg38UCSC Ensembl
Outerchr13:59867641..59919486hg38UCSC Ensembl
Innerchr13:60441812..60493570hg19UCSC Ensembl
Outerchr13:60441775..60493620hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3851846
hg1951846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5934080
SamplesNA18595
Known GenesDIAPH3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664013
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