A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671934



Internal ID9938039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69820428..69824902hg38UCSC Ensembl
chr16:69854331..69858805hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384475
hg194475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv503e199
Supporting Variantsessv5803399, essv6200554, essv6550673, essv5927596, essv5917568, essv6323901, essv5578272, essv5527293, essv5559465, essv5725026, essv6461568, essv5627586, essv6059505, essv6009309, essv5571043, essv6386842, essv5623140, essv5757635, essv5847762, essv5696060, essv5557686, essv5882308, essv6157792, essv6142435, essv5574410, essv6216248, essv6415242, essv5861381, essv6387939, essv5933346, essv5514454, essv6178710, essv6429952, essv5814887, essv6147160, essv5879171, essv5496129, essv6315708, essv6107674, essv5911030, essv6264057, essv5915632, essv6127018, essv6571278, essv5619006, essv5912894, essv6085137, essv5566873, essv6338962, essv5937830, essv5840884, essv6339891, essv5605680, essv6330685, essv6108833, essv5716823, essv5410642, essv6334794
SamplesHG01060, HG01173, NA18621, HG00142, HG00100, NA18959, HG00150, HG00327, HG00589, HG00501, HG00702, NA18618, NA11918, NA19313, HG00334, NA20539, HG00106, HG00236, HG01072, HG00534, NA18986, HG01440, HG00338, HG00326, NA20753, HG00313, HG00149, HG00560, NA18613, HG00443, HG00557, NA12342, HG00428, HG00577, HG00436, NA18907, NA19655, HG00690, HG00531, HG01197, HG00117, HG00140, NA18541, HG00155, HG00254, NA18559, HG00278, HG01357, HG00329, HG00656, HG00280, NA18552, NA18983, HG00252, NA19661, HG00472, HG01125, HG00437
Known GenesWWP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671934
Frequency
Sample Size1151
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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