A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671591



Internal ID9591010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83162542..83176121hg38UCSC Ensembl
chr16:83196147..83209726hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3813580
hg1913580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6060987, essv5601800, essv5416237, essv5831111, essv6527791
SamplesNA20507, HG00137, NA19657, NA19776, NA12778
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671591
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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