A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670302



Internal ID9936407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49814113..49814826hg38UCSC Ensembl
chr16:49848024..49848737hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5473657, essv6392754, essv6339875, essv6483312, essv6272718, essv5853597, essv6520742, essv6284184, essv5612018, essv5746954, essv6054465, essv6252701, essv5979049, essv5638715, essv5558508, essv5890177, essv6366420, essv6133310, essv6211774, essv5657673, essv5765078, essv5553912, essv6433077, essv6518430
SamplesHG00650, NA18592, HG00449, NA18602, HG01354, NA18990, HG00530, HG00419, NA19070, HG00596, NA18516, HG00275, NA19776, HG00331, HG00463, NA18608, HG00580, HG00278, HG01137, HG00620, HG00329, NA18984, HG01378, HG00581
Known GenesZNF423
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670302
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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