A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763706



Internal ID10031056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18173093..19019471hg38UCSC Ensembl
Innerchr22:18655860..19006984hg19UCSC Ensembl
Innerchr22:17035860..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38846379
hg19351125
hg18351125
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99e203
Supporting Variantsessv7004499, essv7004516, essv7004517, essv7004497, essv7004518, essv7004527, essv7004520, essv7004524, essv7004514, essv7004502, essv7004510, essv7004501, essv7004509, essv7004525, essv7004515, essv7004519, essv7004507, essv7004508, essv7004498, essv7004506, essv7004512, essv7004526, essv7004529, essv7004528, essv7004503, essv7004521, essv7004505, essv7004513, essv7004504
SamplesSW_1242, SW_1366, SW_1056, SW_1425, SW_1246, SW_1258, SW_1285, SW_0507, SW_0048, SW_0860, SW_0077, SW_0701, SW_0165, SW_0887, SW_0829, SW_1346, SW_1345, SW_0323, SW_0088, SW_1373, SW_1551, SW_1416, SW_0820, SW_1384, SW_1201, SW_0603, SW_1128, SW_0627, SW_1046
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
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)esv2763706
Frequency
Sample Size1109
Observed Gain24
Observed Loss5
Observed Complex0
Frequencyn/a


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