A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760917



Internal ID10028279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86053909..86079068hg38UCSC Ensembl
Innerchr4:86975062..87000221hg19UCSC Ensembl
Innerchr4:87194086..87219245hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3825160
hg1925160
hg1825160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011338, essv7011378, essv7011362, essv7011336, essv7011358, essv7011337, essv7011342, essv7011349, essv7011360, essv7011379, essv7011368, essv7011375, essv7011380, essv7011359, essv7011381, essv7011367, essv7011354, essv7011363, essv7011382, essv7011371, essv7011350, essv7011385, essv7011364, essv7011353, essv7011341, essv7011369, essv7011376, essv7011339, essv7011372, essv7011365, essv7011348, essv7011357, essv7011373, essv7011356, essv7011383, essv7011343, essv7011361, essv7011384, essv7011345, essv7011352, essv7011347, essv7011351, essv7011370, essv7011340, essv7011346, essv7011374
SamplesRW_0308, RW_0123, RW_0284, RW_0020, RW_0585, RW_0002, RW_0189, RW_0111, RW_0543, RW_0521, RW_0014, RW_0664, RW_0144, RW_0059, RW_0180, RW_0069, RW_0049, RW_0098, RW_0519, RW_0658, RW_0529, RW_0209, RW_0584, RW_0528, RW_0589, RW_0091, RW_0107, RW_0023, RW_0001, RW_0286, RW_0550, RW_0564, RW_0078, RW_0175, RW_0621, RW_0072, RW_0288, RW_0590, RW_0025, RW_0006, RW_0512, RW_0553, RW_0652, RW_0518, RW_0257, RW_0100
Known GenesMAPK10
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)esv2760917
Frequency
Sample Size1109
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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