A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668335



Internal ID9934440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20439798..20440649hg38UCSC Ensembl
chr16:20451120..20451971hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6001902, essv5761697, essv6384446, essv6307278, essv6321513, essv5451417, essv5883450, essv6526306, essv5670262, essv5949780, essv5935363, essv6167204, essv6262101, essv5851309, essv5684645, essv6580984, essv6241442, essv6534170, essv5804548
SamplesNA11830, NA11920, NA20805, NA19777, HG00177, HG00261, HG00173, NA20774, HG00369, HG00106, HG00266, HG00183, NA19655, HG00117, NA12778, NA12272, HG00237, HG00112, HG01377
Known GenesACSM5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668335
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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