A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763784



Internal ID10031134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46747685..46838512hg38UCSC Ensembl
Innerchr3:46789175..46880002hg19UCSC Ensembl
Innerchr3:46764179..46855006hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3890828
hg1990828
hg1890828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv102e203
Supporting Variantsessv7027107, essv7027110, essv7027100, essv7027133, essv7027116, essv7027134, essv7027108, essv7027087, essv7027118, essv7027096, essv7027117, essv7027088, essv7027115, essv7027130, essv7027090, essv7027094, essv7027093, essv7027125, essv7027106, essv7027138, essv7027126, essv7027092, essv7027120, essv7027127, essv7027122, essv7027121, essv7027132, essv7027136, essv7027123, essv7027137, essv7027104, essv7027089, essv7027101, essv7027139, essv7027086, essv7027114, essv7027095, essv7027119, essv7027109, essv7027099, essv7027098, essv7027112, essv7027129, essv7027111, essv7027097, essv7027105, essv7027131, essv7027128, essv7027103
SamplesSW_0370, SW_1192, SW_1086, SW_1021, SW_0354, SW_1439, SW_1402, SW_0030, SW_1115, SW_0016, SW_1433, SW_1199, SW_1056, SW_0620, SW_1143, SW_0149, SW_1286, SW_1138, SW_0660, SW_1129, SW_1013, SW_1252, SW_0786, SW_1211, SW_0785, SW_1469, SW_0369, SW_1104, SW_0216, SW_1289, SW_0661, SW_0715, SW_1527, SW_0058, SW_1370, SW_1506, SW_1220, SW_1482, SW_0653, SW_1112, SW_1345, SW_0103, SW_1571, SW_1215, SW_1087, SW_1424, SW_1262, SW_1026, SW_1281
Known GenesPRSS42
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)esv2763784
Frequency
Sample Size1109
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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