A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763705



Internal ID10031055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25260266..25602486hg38UCSC Ensembl
Innerchr22:25656233..25998453hg19UCSC Ensembl
Innerchr22:23986233..24328453hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38342221
hg19342221
hg18342221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv100e203
Supporting Variantsessv7004742, essv7004741, essv7004731, essv7004740, essv7004715, essv7004708, essv7004707, essv7004701, essv7004743, essv7004739, essv7004725, essv7004702, essv7004737, essv7004717, essv7004709, essv7004729, essv7004728, essv7004698, essv7004726, essv7004712, essv7004735, essv7004732, essv7004704, essv7004727, essv7004710, essv7004724, essv7004697, essv7004723, essv7004703, essv7004720, essv7004714, essv7004730, essv7004699, essv7004736, essv7004738, essv7004716, essv7004721, essv7004713, essv7004705, essv7004734, essv7004718, essv7004706, essv7004719
SamplesSW_1441, SW_0831, SW_0057, SW_1030, SW_1304, SW_1184, SW_1138, SW_0660, SW_1398, SW_1447, SW_1098, SW_0834, SW_1252, SW_1124, SW_0800, SW_1254, SW_1082, SW_0047, SW_1393, SW_0062, SW_0375, SW_1134, SW_1040, SW_1411, SW_1481, SW_1075, SW_0641, SW_1414, SW_0271, SW_1059, SW_1265, SW_1249, SW_0379, SW_1074, SW_0883, SW_1301, SW_0018, SW_1520, SW_1373, SW_0586, SW_1384, SW_0100
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763705
Frequency
Sample Size1109
Observed Gain29
Observed Loss13
Observed Complex0
Frequencyn/a


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