A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760576



Internal ID10027938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130634172..131521752hg38UCSC Ensembl
Innerchr2:131391745..132279325hg19UCSC Ensembl
Innerchr2:131108215..131995795hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38887581
hg19887581
hg18887581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008085, essv7008101, essv7008082, essv7008091, essv7008092, essv7008073, essv7008095, essv7008090, essv7008081, essv7008094, essv7008099, essv7008083, essv7008075, essv7008098, essv7008076, essv7008097, essv7008086, essv7008074, essv7008084, essv7008072, essv7008096, essv7008087, essv7008093, essv7008080, essv7008088, essv7008079
SamplesRW_0281, RW_0129, RW_0029, RW_0619, RW_0173, RW_0211, RW_0506, RW_0646, RW_0188, RW_0616, RW_0311, RW_0268, RW_0212, RW_0216, RW_0023, RW_0178, RW_0323, RW_0195, RW_0065, RW_0062, RW_0279, RW_0262, RW_0257, RW_0622, RW_0606
Known GenesAMER3, ARHGEF4, CYP4F30P, FAM168B, GPR148, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, POTEJ, RNU6-81P, TUBA3D, WTH3DI
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)esv2760576
Frequency
Sample Size1109
Observed Gain5
Observed Loss20
Observed Complex0
Frequencyn/a


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