A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127e203



Internal ID20126352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143794196..144129470hg38UCSC Ensembl
chr4:144715349..145050623hg19UCSC Ensembl
chr4:144934799..145270073hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38335275
hg19335275
hg18335275
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760865, esv2763856
SamplesRW_0030, RW_0220, RW_0334, RW_0193, SW_1463, RW_0222, RW_0348, RW_0612, RW_0585, RW_0269, RW_0115, RW_0270, RW_0273, RW_0614, RW_0258, RW_0608, RW_0521, SW_1040, RW_0162, RW_0021, SW_1202, SW_1292, RW_0208, RW_0237, RW_0610, RW_0551, SW_0875, RW_0505, RW_0322, SW_1068, RW_0508, RW_0300, RW_0666, RW_0143, RW_0231, RW_0526, RW_0584, SW_0006, RW_0589, RW_0191, RW_0268, SW_0507, RW_0618, RW_0085, RW_0001, RW_0648, SW_1357, RW_0583, RW_0564, RW_0132, RW_0065, RW_0324, SW_0887, SW_0015, RW_0072, RW_0590, RW_0359, RW_0636, SW_1092, RW_0555, RW_0602, RW_0554, RW_0038, SW_1252, RW_0553, RW_0335, RW_0079, RW_0011, RW_0606
Known GenesGYPA, GYPB, GYPE
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)dgv127e203
Frequency
Sample Size1109
Observed Gain17
Observed Loss53
Observed Complex0
Frequencyn/a


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