A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663712



Internal ID9929817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11667663..11668535hg38UCSC Ensembl
chr17:11570980..11571852hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5612277, essv6585279
SamplesNA18603, NA18611
Known GenesDNAH9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663712
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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