A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658528



Internal ID9577947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63788181..63788550hg38UCSC Ensembl
Outerchr17:63788144..63788600hg38UCSC Ensembl
Innerchr17:61865541..61865910hg19UCSC Ensembl
Outerchr17:61865504..61865960hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587967, essv5728311, essv5982631, essv6283465, essv5681124, essv5827203
SamplesNA18917, NA19197, NA19384, NA18516, NA18907, NA19360
Known GenesDDX42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658528
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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