A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763905



Internal ID10031255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102625..32172387hg38UCSC Ensembl
Innerchr5:32102731..32172493hg19UCSC Ensembl
Innerchr5:32138488..32208250hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3869763
hg1969763
hg1869763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031017, essv7031011, essv7031028, essv7031030, essv7031008, essv7030999, essv7031024, essv7031014, essv7031021, essv7031025, essv7031032, essv7031005, essv7031026, essv7031002, essv7031037, essv7031003, essv7031013, essv7031027, essv7031031, essv7031004, essv7031038, essv7031020, essv7031007, essv7031000, essv7031010, essv7031015, essv7031036, essv7031033, essv7031019, essv7031016, essv7031029, essv7031006, essv7031009, essv7031018, essv7031035, essv7031022
SamplesSW_1107, SW_1229, SW_0619, SW_0771, SW_1124, SW_0862, SW_0552, SW_0833, SW_1013, SW_1121, SW_0856, SW_1138, SW_1290, SW_0009, SW_1163, SW_0002, SW_1438, SW_1482, SW_0663, SW_1288, SW_0216, SW_1031, SW_0203, SW_0256, SW_0538, SW_0818, SW_1157, SW_0172, SW_1459, SW_1323, SW_1008, SW_1059, SW_0594, SW_1279, SW_0031, SW_1472
Known GenesGOLPH3, PDZD2
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)esv2763905
Frequency
Sample Size1109
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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