A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760917

Internal ID10028279
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86053909..86079068hg38UCSC Ensembl
Innerchr4:86975062..87000221hg19UCSC Ensembl
Innerchr4:87194086..87219245hg18UCSC Ensembl
Allele length
AssemblyAllele length
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
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.
Pubmed ID21179565
Accession Number(s)esv2760917
Sample Size1109
Observed Gain0
Observed Loss46
Observed Complex0

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