A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676783



Internal ID9942888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49901179..49905063hg38UCSC Ensembl
Outerchr13:49901022..49905216hg38UCSC Ensembl
Innerchr13:50475315..50479199hg19UCSC Ensembl
Outerchr13:50475158..50479352hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384195
hg194195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351e199
Supporting Variantsessv5854253, essv6498348, essv6535992, essv6363933, essv6055866
SamplesNA19350, NA19373, HG01107, NA19380, NA19311
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676783
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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