A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760878



Internal ID10028240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155640759..155680884hg38UCSC Ensembl
Innerchr4:156561911..156602036hg19UCSC Ensembl
Innerchr4:156781361..156821486hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3840126
hg1940126
hg1840126
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
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)esv2760878
Frequency
Sample Size1109
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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