A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667262



Internal ID9933367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232639494..232639792hg38UCSC Ensembl
chr1:232775240..232775538hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6067381, essv5872351, essv6304378, essv6250038, essv6294628, essv6314340, essv5688514, essv5698030, essv6398297, essv6199984, essv6485757, essv5534999, essv5713401, essv5980640, essv6572959, essv6388287, essv5777187, essv5838795, essv6098035, essv5849118, essv6147630, essv6228589, essv5628843, essv5411032, essv5747671, essv5453721, essv5942663, essv5518834, essv5439588, essv6231707, essv6463807, essv5766126, essv6437628, essv6147929, essv6183573, essv6150856, essv5685633, essv5677293, essv6336017, essv5895116, essv5416047, essv5913621, essv5612037, essv5401144, essv5662118, essv5895093, essv5851873, essv5596287, essv5460580, essv5699893, essv5476699, essv5643898, essv5609276, essv5675290, essv6597888, essv6361251, essv5978458, essv6073563, essv5820652, essv6217085, essv6346783, essv5917638, essv5887908, essv6268711, essv5554999, essv6420265
SamplesNA18502, NA12717, NA11829, NA18861, NA18592, NA10851, NA18980, NA11920, NA11931, NA12751, NA18870, NA18510, NA07357, NA18944, NA18940, NA18489, NA12891, NA18558, NA18960, NA11992, NA11918, NA18582, NA18571, NA18964, NA12761, NA19137, NA19238, NA12044, NA18520, NA19239, NA11993, NA11831, NA10847, NA19210, NA12489, NA12878, NA18516, NA18572, NA18948, NA18537, NA11919, NA18499, NA11894, NA12249, NA18912, NA12892, NA18532, NA18853, NA19099, NA12144, NA18593, NA12043, NA18953, NA12716, NA19108, NA18952, NA18564, NA07051, NA07037, NA06986, NA12749, NA18609, NA19129, NA12006, NA12776, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667262
Frequency
Sample Size1151
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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