A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763332



Internal ID10376012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183924733..183950834hg38UCSC Ensembl
Innerchr2:184789460..184815561hg19UCSC Ensembl
Innerchr2:184497705..184523806hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3826102
hg1926102
hg1826102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021422, essv7021510, essv7021399, essv7021488, essv7021411, essv7021655, essv7021555, essv7021588, essv7021621, essv7021433, essv7021455, essv7021533, essv7021610, essv7021499, essv7021522, essv7021566, essv7021444, essv7021577, essv7021477, essv7021544, essv7021633, essv7021466, essv7021644, essv7021599
SamplesSW_1108, SW_1283, SW_0016, SW_1433, SW_0575, SW_1234, SW_1051, SW_0660, SW_0589, SW_0032, SW_0646, SW_1404, SW_1102, SW_0703, SW_0089, SW_0044, SW_0775, SW_0258, SW_0101, SW_1478, SW_0186, SW_1509, SW_0159, SW_0690
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)esv2763332
Frequency
Sample Size1109
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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