A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760720



Internal ID10028082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25232032..25612136hg38UCSC Ensembl
Innerchr22:25627999..26008103hg19UCSC Ensembl
Innerchr22:23957999..24338103hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38380105
hg19380105
hg18380105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv100e203
Supporting Variantsessv7026880, essv7026893, essv7026898, essv7026875, essv7026877, essv7026921, essv7026884, essv7026897, essv7026901, essv7026886, essv7026899, essv7026917, essv7026902, essv7026895, essv7026881, essv7026887, essv7026909, essv7026882, essv7026903, essv7026905, essv7026907, essv7026906, essv7026923, essv7026896, essv7026904, essv7026912, essv7026891, essv7026888, essv7026920, essv7026918, essv7026915, essv7026892, essv7026879, essv7026914, essv7026894, essv7026908, essv7026919, essv7026876, essv7026883, essv7026910, essv7026885, essv7026890, essv7026916, essv7026913
SamplesRW_0169, RW_0046, RW_0256, RW_0152, RW_0312, RW_0560, RW_0205, RW_0192, RW_0115, RW_0003, RW_0357, RW_0570, RW_0267, RW_0528, RW_0161, RW_0230, RW_0631, RW_0272, RW_0539, RW_0643, RW_0143, RW_0601, RW_0077, RW_0593, RW_0302, RW_0029, RW_0587, RW_0250, RW_0288, RW_0653, RW_0597, RW_0008, RW_0578, RW_0106, RW_0073, RW_0507, RW_0663, RW_0562, RW_0108, RW_0584, RW_0170, RW_0031, RW_0532
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)esv2760720
Frequency
Sample Size1109
Observed Gain24
Observed Loss19
Observed Complex0
Frequencyn/a


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