A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760836



Internal ID10028198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150933797..150963158hg38UCSC Ensembl
Innerchr4:151854949..151884310hg19UCSC Ensembl
Innerchr4:152074399..152103760hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3829362
hg1929362
hg1829362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011921, essv7011924, essv7011927, essv7011938, essv7011923, essv7011957, essv7011943, essv7011912, essv7011956, essv7011948, essv7011930, essv7011953, essv7011910, essv7011934, essv7011962, essv7011950, essv7011937, essv7011941, essv7011929, essv7011960, essv7011946, essv7011935, essv7011914, essv7011926, essv7011936, essv7011958, essv7011947, essv7011925, essv7011907, essv7011942, essv7011952, essv7011939, essv7011919, essv7011940, essv7011909, essv7011918, essv7011908, essv7011949, essv7011951, essv7011928, essv7011931, essv7011961, essv7011932, essv7011954, essv7011915, essv7011945, essv7011913, essv7011920, essv7011916, essv7011959, essv7011917
SamplesRW_0503, RW_0357, RW_0176, RW_0310, RW_0116, RW_0020, RW_0189, RW_0184, RW_0243, RW_0201, RW_0521, RW_0346, RW_0024, RW_0028, RW_0664, RW_0155, RW_0223, RW_0341, RW_0098, RW_0666, RW_0593, RW_0592, RW_0209, RW_0304, RW_0268, RW_0307, RW_0212, RW_0043, RW_0255, RW_0004, RW_0276, RW_0156, RW_0336, RW_0110, RW_0207, RW_0599, RW_0003, RW_0659, RW_0132, RW_0660, RW_0662, RW_0233, RW_0017, RW_0545, RW_0636, RW_0635, RW_0006, RW_0513, RW_0203, RW_0536, RW_0644
Known GenesLRBA
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)esv2760836
Frequency
Sample Size1109
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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