A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv526e199



Internal ID22758299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5181799..5182606hg38UCSC Ensembl
chr17:5085094..5085901hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2659024, esv2666183
SamplesNA19700, NA19909, NA18508, NA18498, NA19130, NA18874, NA19707, NA18871, NA20296
Known GenesZNF594
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv526e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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