A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658810



Internal ID9924915
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6426569, essv5488985, essv5551156, essv5753446, essv5933597, essv5571650, essv6144042
SamplesHG00566, HG01140, HG01351, HG00139, NA19788, HG00140, HG00357
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658810
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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