A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6426569



Internal ID8750670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28846600..28852572hg38UCSC Ensembl
chr17:27173618..27179590hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385973
hg195973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658810
Supporting Variants
SamplesHG00140
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6426569
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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