A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760082



Internal ID10376390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108950277..108967060hg38UCSC Ensembl
Innerchr1:109492899..109509682hg19UCSC Ensembl
Innerchr1:109294422..109311205hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3816784
hg1916784
hg1816784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005930, essv7005895, essv7005914, essv7005910, essv7005947, essv7005948, essv7005945, essv7005936, essv7005937, essv7005912, essv7005921, essv7005934, essv7005932, essv7005926, essv7005939, essv7005938, essv7005935, essv7005907, essv7005931, essv7005919, essv7005906, essv7005902, essv7005905, essv7005904, essv7005898, essv7005925, essv7005917, essv7005909, essv7005943, essv7005903, essv7005928, essv7005927, essv7005901, essv7005916, essv7005942, essv7005924, essv7005896, essv7005929, essv7005899, essv7005923, essv7005946, essv7005949, essv7005915, essv7005897, essv7005941, essv7005908, essv7005920, essv7005940, essv7005913, essv7005918
SamplesRW_0274, RW_0169, RW_0356, RW_0203, RW_0553, RW_0359, RW_0268, RW_0604, RW_0090, RW_0314, RW_0555, RW_0188, RW_0586, RW_0504, RW_0062, RW_0615, RW_0216, RW_0558, RW_0122, RW_0173, RW_0103, RW_0643, RW_0171, RW_0546, RW_0221, RW_0176, RW_0002, RW_0530, RW_0666, RW_0177, RW_0515, RW_0524, RW_0251, RW_0307, RW_0193, RW_0088, RW_0320, RW_0068, RW_0527, RW_0278, RW_0331, RW_0215, RW_0599, RW_0050, RW_0646, RW_0223, RW_0184, RW_0508, RW_0248, RW_0084
Known GenesCLCC1
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)esv2760082
Frequency
Sample Size1109
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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