A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760878

Internal ID10028240
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155640759..155680884hg38UCSC Ensembl
Innerchr4:156561911..156602036hg19UCSC Ensembl
Innerchr4:156781361..156821486hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011999, essv7012015, essv7012040, essv7012019, essv7011998, essv7012037, essv7012010, essv7012029, essv7012014, essv7012026, essv7012004, essv7012013, essv7012006, essv7012036, essv7012017, essv7012001, essv7012043, essv7012018, essv7012032, essv7012012, essv7012024, essv7012031, essv7012002, essv7012028, essv7012021, essv7012041, essv7012027, essv7012038, essv7012025, essv7012008, essv7012016, essv7012034, essv7012005, essv7012020, essv7012039, essv7012042, essv7012007, essv7012030, essv7012023, essv7012003, essv7012035, essv7012009
SamplesRW_0213, RW_0082, RW_0118, RW_0309, RW_0220, RW_0334, RW_0183, RW_0145, RW_0013, RW_0181, RW_0243, RW_0273, RW_0630, RW_0201, RW_0595, RW_0208, RW_0144, RW_0506, RW_0341, RW_0592, RW_0122, RW_0092, RW_0228, RW_0361, RW_0276, RW_0112, RW_0336, RW_0171, RW_0174, RW_0263, RW_0659, RW_0074, RW_0266, RW_0251, RW_0635, RW_0262, RW_0513, RW_0114, RW_0053, RW_0652, RW_0190, RW_0271
Known GenesGUCY1A3
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)esv2760878
Sample Size1109
Observed Gain0
Observed Loss42
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer