A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv45e203



Internal ID20126270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43542120..43732292hg38UCSC Ensembl
chr15:43834318..44024490hg19UCSC Ensembl
chr15:41621610..41811782hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38190173
hg19190173
hg18190173
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761766, esv2760393
SamplesSW_1266, SW_0832, SW_1375, SW_0639, SW_1437, SW_1092, RW_0330, RW_0181, SW_1447, RW_0255, RW_0062, SW_1455, SW_1413, SW_1204, SW_1044, RW_0558, RW_0310, SW_1103, SW_1140, SW_1467, SW_1060, RW_0195, SW_1332, SW_1346, SW_1004, RW_0663, RW_0562, SW_0678, RW_0275, RW_0220, RW_0215, SW_0822, SW_0160, RW_0034
Known GenesCATSPER2, CKMT1A, CKMT1B, PPIP5K1, RNU6-28P, STRC
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)dgv45e203
Frequency
Sample Size1109
Observed Gain8
Observed Loss26
Observed Complex0
Frequencyn/a


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