A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv351e199



Internal ID22758124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49900223..49905979hg38UCSC Ensembl
chr13:50474359..50480115hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg385757
hg195757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676783, esv2675395
SamplesNA19350, NA19373, HG01107, NA19380, NA19311
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv351e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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