A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760325



Internal ID10376633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20877548..20957189hg38UCSC Ensembl
Innerchr14:21345707..21425348hg19UCSC Ensembl
Innerchr14:20415547..20495188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3879642
hg1979642
hg1879642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv34e203
Supporting Variantsessv7022051, essv7022036, essv7022045, essv7022039, essv7022047, essv7021993, essv7022027, essv7022004, essv7021998, essv7022005, essv7022037, essv7022001, essv7021994, essv7022054, essv7022016, essv7022014, essv7022015, essv7022012, essv7022021, essv7022028, essv7022017, essv7022013, essv7022008, essv7022023, essv7022043, essv7022018, essv7022032, essv7021997, essv7022025, essv7021995, essv7022010, essv7022024, essv7022029, essv7022049, essv7022038, essv7022040, essv7022007, essv7022035, essv7022026, essv7022048, essv7022041, essv7021991, essv7022053, essv7022046, essv7022019, essv7022031, essv7021999, essv7022002, essv7021990, essv7022009, essv7022030, essv7021996, essv7021992, essv7021987, essv7022003, essv7022042, essv7022020, essv7022006, essv7022034, essv7022050, essv7021988, essv7022052
SamplesRW_0059, RW_0071, RW_0095, RW_0087, RW_0148, RW_0292, RW_0526, RW_0039, RW_0158, RW_0345, RW_0099, RW_0141, RW_0330, RW_0180, RW_0025, RW_0629, RW_0614, RW_0179, RW_0271, RW_0533, RW_0115, RW_0100, RW_0603, RW_0228, RW_0017, RW_0623, RW_0005, RW_0094, RW_0567, RW_0552, RW_0286, RW_0655, RW_0054, RW_0140, RW_0001, RW_0653, RW_0625, RW_0307, RW_0193, RW_0056, RW_0578, RW_0609, RW_0194, RW_0564, RW_0513, RW_0622, RW_0126, RW_0669, RW_0235, RW_0589, RW_0229, RW_0584, RW_0579, RW_0149, RW_0124, RW_0627, RW_0014, RW_0033, RW_0162
Known GenesECRP, RNASE2, RNASE3
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)esv2760325
Frequency
Sample Size1109
Observed Gain3
Observed Loss56
Observed Complex0
Frequencyn/a


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