A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676233



Internal ID9942338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29043550..29344250hg38UCSC Ensembl
Outerchr13:29043516..29344285hg38UCSC Ensembl
Innerchr13:29617687..29918387hg19UCSC Ensembl
Outerchr13:29617653..29918422hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38300770
hg19300770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv341e199
Supporting Variantsessv5810951
SamplesHG00110
Known GenesMTUS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676233
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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