A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660619



Internal ID9580038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17658930..17661862hg38UCSC Ensembl
chr22:18141696..18144628hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5630606, essv6444339, essv5500132, essv6210438, essv6128877, essv6437632, essv5658251, essv5652071, essv5459776, essv5894886, essv5896371, essv6203087, essv6064228, essv5504553, essv5772872, essv5866250, essv5476767, essv6456950, essv5595620, essv5931390, essv5694566, essv5580509, essv6292261, essv6427793, essv6419910, essv6137675, essv5954086, essv6077649, essv6228183, essv6425963, essv6509364, essv6024565, essv6095966, essv6100761, essv6292381, essv5832542, essv5854996, essv5929059, essv5522779, essv6041343, essv5645704, essv6151531, essv6173665, essv6187627, essv5482681, essv6030397, essv6181226, essv6502660, essv6551444, essv5453357, essv5521419, essv6479557, essv5593594, essv5749033, essv6540293, essv6232171, essv6143998, essv5520381, essv5675640, essv5584925, essv6380400, essv5538518, essv5807782, essv6593897, essv6009428, essv5496402, essv6133376, essv5815703, essv5899751, essv6362325, essv5931921, essv5823739, essv5761231, essv6556150, essv5731789, essv5461356, essv5427999, essv5995612, essv5630109, essv5669732, essv6306729, essv6350671, essv5657091, essv5806500, essv5768422, essv5486182, essv5964069, essv5806002, essv5892377, essv5501006, essv6215052, essv5699748, essv6382848, essv6385525, essv5701928
SamplesHG00309, NA19625, HG01359, NA11930, HG00182, NA20809, HG01072, NA20785, HG00100, HG00328, HG01055, HG01342, HG01083, HG00274, NA12347, HG00131, NA19783, HG00160, HG00310, NA06989, NA12340, HG01082, HG01488, HG01174, HG00326, NA20786, NA19782, HG01350, HG00190, HG00111, HG00187, NA19648, HG01134, HG00331, HG00146, HG00319, HG00253, NA19780, NA20521, HG00156, HG00188, NA19776, HG00353, HG00247, HG00269, HG01107, HG01148, HG01384, NA20819, HG00421, NA19675, HG00638, HG01048, HG01047, NA20807, HG01124, NA12273, HG00150, NA11831, HG01136, NA20336, HG00174, NA19679, NA12830, HG00237, HG00343, HG00133, NA20773, HG01497, NA20769, HG01437, NA12716, HG00325, HG00263, NA20753, HG01073, HG00273, NA20828, HG01080, NA20582, HG00246, HG00377, NA19789, HG00236, HG01334, HG00118, NA11992, NA12399, NA19655, HG00142, NA12045, HG01498, HG00275, HG00126, HG00327
Known GenesBCL2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660619
Frequency
Sample Size1151
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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