A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670792



Internal ID9590211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77380804..77386405hg38UCSC Ensembl
chr17:75376886..75382487hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6096302
SamplesNA18567
Known GenesSEPT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670792
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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