A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv527e199



Internal ID22758300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5240049..5253295hg38UCSC Ensembl
chr17:5143344..5156590hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813247
hg1913247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663066, esv2676024
SamplesHG01489
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv527e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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