A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763956



Internal ID10377992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110073310..110092034hg38UCSC Ensembl
Innerchr6:110394513..110413237hg19UCSC Ensembl
Innerchr6:110501206..110519930hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3818725
hg1918725
hg1818725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv144e203
Supporting Variantsessv7033169, essv7033174, essv7033180, essv7033179, essv7033182, essv7033173, essv7033181, essv7033185, essv7033184, essv7033186, essv7033172, essv7033177, essv7033175, essv7033176, essv7033170, essv7033171, essv7033183
SamplesSW_1406, SW_0057, SW_0623, SW_0173, SW_0085, SW_1456, SW_0605, SW_1282, SW_1523, SW_0789, SW_0271, SW_0663, SW_0254, SW_1301, SW_0144, SW_0690, SW_0675
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)esv2763956
Frequency
Sample Size1109
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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