A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760909



Internal ID10377216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:188929140..189530435hg38UCSC Ensembl
Innerchr4:189850294..190451589hg19UCSC Ensembl
Innerchr4:190087288..190688583hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38601296
hg19601296
hg18601296
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012375, essv7012382, essv7012368, essv7012379, essv7012371, essv7012367, essv7012362, essv7012380, essv7012381, essv7012376, essv7012363, essv7012378, essv7012369, essv7012365, essv7012364, essv7012374, essv7012384, essv7012383, essv7012370, essv7012373, essv7012372
SamplesRW_0039, RW_0239, RW_0256, RW_0258, RW_0312, RW_0189, RW_0283, RW_0049, RW_0082, RW_0544, RW_0576, RW_0546, RW_0530, RW_0587, RW_0625, RW_0633, RW_0507, RW_0142, RW_0518, RW_0209, RW_0590
Known Genes
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)esv2760909
Frequency
Sample Size1109
Observed Gain18
Observed Loss3
Observed Complex0
Frequencyn/a


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