A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv42e203

Internal ID18985019
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30077711..30807423hg38UCSC Ensembl
chr15:30369914..31099626hg19UCSC Ensembl
chr15:28157206..28886918hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761732, esv2760396
SamplesSW_1334, SW_1165, SW_0073, RW_0123, RW_0520, SW_1055, RW_0325, RW_0284, SW_0568, RW_0129, RW_0613, RW_0104, RW_0020, RW_0045, SW_0144, RW_0002, SW_0241, RW_0619, RW_0273, RW_0297, RW_0196, SW_1281, SW_0158, RW_0280, RW_0024, SW_0142, RW_0226, SW_1375, RW_0299, RW_0506, SW_1268, SW_1147, SW_1259, RW_0069, SW_1482, RW_0508, RW_0094, RW_0300, SW_1527, SW_1450, RW_0616, RW_0633, SW_1326, RW_0063, SW_0592, RW_0304, RW_0200, RW_0522, RW_0267, RW_0085, SW_0691, RW_0178, SW_1254, SW_1433, RW_0007, RW_0110, SW_1222, SW_1193, RW_0286, SW_1114, SW_0604, SW_1429, RW_0132, RW_0146, SW_1343, RW_0078, RW_0349, RW_0169, SW_1345, SW_0077, SW_0103, SW_0190, RW_0602, RW_0048, SW_1455, SW_1072, SW_0577, SW_1150, RW_0190, RW_0271
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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.
Pubmed ID21179565
Accession Number(s)dgv42e203
Sample Size1109
Observed Gain34
Observed Loss46
Observed Complex0

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