A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv532e199



Internal ID22758305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8093379..8094071hg38UCSC Ensembl
chr17:7996697..7997389hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674527, esv2659032
SamplesNA18502, NA11995, HG01389, NA12155, NA18967, NA19374, NA19448, NA19916, NA19313, NA19172, NA19471, NA19445, NA19462, NA18516, NA19114, NA18853, NA19318, NA18974, NA19375, NA19434, NA19331, NA19334, NA19428, NA19376, NA20334, NA19312, NA19429, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv532e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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