A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668309



Internal ID9934414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89829649..89831982hg38UCSC Ensembl
chr16:89896057..89898390hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382334
hg192334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364244, essv6285237, essv5660851, essv5526856, essv6073043, essv6549529, essv6282078, essv6508715, essv5982174, essv6052364, essv6054624, essv5642619, essv5602310, essv6277933, essv6407710, essv6329541, essv5466256, essv5440425, essv6216805, essv6238350, essv6332599, essv6476267, essv6594112, essv5994875, essv5658941, essv5901467, essv6548187, essv5427265, essv6477995, essv5437550, essv6542794, essv5737192, essv5682777, essv5543120, essv6537738, essv6160795, essv6548528, essv6438726, essv6187343, essv5952303, essv6347542, essv6007532, essv6352833, essv6078317, essv5553491, essv5558905, essv5646541, essv6006312, essv6582819, essv5663878, essv6355585, essv5723796, essv6158917, essv5473185, essv6239705, essv6497604, essv5609481, essv6444848, essv5589439, essv5822902, essv5906094, essv5643997
SamplesHG00096, HG00114, NA12842, NA11995, HG00187, NA12414, NA12843, HG01188, NA20531, HG00315, HG00306, NA20802, HG00115, NA07357, NA12413, NA12341, HG00271, NA07346, HG00127, HG00272, HG00330, NA11992, NA11918, HG00346, NA12761, HG01170, HG00156, NA11932, HG00118, HG00159, HG01133, HG00264, NA12748, HG00108, NA10847, HG00313, HG00137, HG01136, NA12489, HG00245, NA12342, NA12003, NA20810, NA19663, NA18516, NA20770, NA12249, NA12144, HG00246, NA12546, HG01075, HG00254, NA19712, NA20527, HG00256, NA12347, HG00339, HG00111, HG00267, NA12830, HG01125, NA12006
Known GenesSPIRE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668309
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer