A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5424095



Internal ID9819021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80016317..80026823hg38UCSC Ensembl
Outerchr17:80015946..80027193hg38UCSC Ensembl
Innerchr17:77990116..78000622hg19UCSC Ensembl
Outerchr17:77989745..78000992hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3811248
hg1911248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677682
Supporting Variants
SamplesNA20127
Known GenesTBC1D16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5424095
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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