A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763838



Internal ID10031188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3873169..4197316hg38UCSC Ensembl
Innerchr4:3874896..4199043hg19UCSC Ensembl
Innerchr4:3844694..4249944hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38324148
hg19324148
hg18405251
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028586, essv7028581, essv7028580, essv7028589, essv7028578, essv7028582, essv7028585, essv7028584, essv7028577, essv7028576, essv7028587, essv7028588, essv7028583
SamplesSW_0286, SW_0873, SW_1436, SW_1129, SW_1114, SW_0815, SW_1305, SW_1126, SW_1404, SW_0861, SW_0120, SW_1273, SW_1213
Known GenesFAM86EP, OTOP1
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)esv2763838
Frequency
Sample Size1109
Observed Gain3
Observed Loss10
Observed Complex0
Frequencyn/a


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