A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763696



Internal ID10031046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384236..16983056hg38UCSC Ensembl
Innerchr22:16864898..17463946hg19UCSC Ensembl
Innerchr22:15244898..15843946hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38598821
hg19599049
hg18599049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004491, essv7004484, essv7004486, essv7004492, essv7004488, essv7004485, essv7004490, essv7004487
SamplesSW_1387, SW_0226, SW_1204, SW_1134, SW_0661, SW_0186, SW_0159, SW_1119
Known GenesANKRD62P1-PARP4P3, CCT8L2, GAB4, HSFY1P1, TPTEP1, XKR3
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)esv2763696
Frequency
Sample Size1109
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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