A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663885



Internal ID9583304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62157260..62158657hg38UCSC Ensembl
chr1:62622932..62624329hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5904716, essv6003684, essv6306580, essv5484106, essv5657710, essv6503120, essv6007988, essv5661898, essv5691703, essv5720960, essv6292044, essv5583336, essv6521626, essv5781005, essv5806431, essv6581022, essv5820692, essv5503179, essv5888297, essv5638913, essv5412435, essv6513176, essv5403739, essv6498737, essv6092571, essv5530351, essv6067597, essv6486441, essv6040404, essv5648699, essv5545025, essv5692518, essv5943086, essv5701106, essv5883493, essv6335603, essv5513234, essv5702656, essv5883706, essv6072072, essv6418756, essv5727150, essv6366396, essv6338429, essv5884621, essv6202443, essv6518990, essv5538729, essv6231618, essv6043966, essv5599084, essv6442217, essv5608337, essv6077078, essv5955455, essv6556219, essv6596646, essv6461120, essv5850132, essv5549920, essv6308731, essv6039931, essv6495055, essv6549794, essv5807668, essv6104782, essv6465591, essv5448341, essv6018576, essv6537186, essv6566939, essv6404524, essv5617068, essv5751631, essv6016140, essv6048125, essv6413287, essv6502227, essv6216316, essv5944461, essv5973990
SamplesNA19248, HG00734, HG01440, NA12748, NA20809, HG01075, HG01173, NA06989, HG01079, NA20775, HG01365, HG01492, HG01491, HG00553, HG00111, HG01461, NA19648, NA19651, NA19678, HG00280, HG01101, NA19682, HG00177, NA20798, NA20803, HG00156, NA19761, HG01133, NA19762, HG01375, HG00583, NA19660, NA19900, NA19722, HG01183, HG00330, NA11933, NA19774, HG00125, NA19773, NA19663, NA19728, NA20769, HG00373, HG01437, NA19786, NA19785, HG01465, NA19771, HG01191, HG01066, NA12778, NA19716, NA19657, NA19731, HG01073, NA19332, HG00740, HG01060, HG00377, NA20813, NA19777, HG01137, NA19729, NA20534, NA19723, NA06984, NA19719, NA19747, NA19770, NA19749, NA19717, HG01366, HG00641, HG01102, HG01489, HG01377, HG00345, NA19750, HG00278, NA19779
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663885
Frequency
Sample Size1151
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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