A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677682



Internal ID9943787
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 Flag
Merged StatusM
Merged Variantsdgv572e199
Supporting Variantsessv6288623, essv5900399, essv5518290, essv5513897, essv5665613, essv6445034, essv5436354, essv5424095, essv5475411, essv6344332, essv6295661
SamplesNA19909, NA19819, NA19920, NA19917, NA20340, NA20127, NA19985, NA20299, NA19834, NA20276, NA19713
Known GenesTBC1D16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677682
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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