A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760856



Internal ID10377163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:157697493..157722274hg38UCSC Ensembl
Innerchr4:158618645..158643426hg19UCSC Ensembl
Innerchr4:158838095..158862876hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3824782
hg1924782
hg1824782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012050, essv7012052, essv7012058, essv7012060, essv7012051, essv7012054, essv7012067, essv7012062, essv7012053, essv7012064, essv7012065, essv7012057, essv7012059, essv7012063, essv7012061, essv7012056
SamplesRW_0196, RW_0125, RW_0218, RW_0570, RW_0269, RW_0592, RW_0577, RW_0659, RW_0324, RW_0065, RW_0310, RW_0669, RW_0021, RW_0119, RW_0191, RW_0535
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)esv2760856
Frequency
Sample Size1109
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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