A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760734



Internal ID10377041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137308426..137324378hg38UCSC Ensembl
Innerchr3:137027268..137043220hg19UCSC Ensembl
Innerchr3:138509958..138525910hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3815953
hg1915953
hg1815953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv108e203
Supporting Variantsessv7009475, essv7009478, essv7009470, essv7009481, essv7009482, essv7009471, essv7009479, essv7009472, essv7009483, essv7009485, essv7009484, essv7009476, essv7009473, essv7009474, essv7009480
SamplesRW_0169, RW_0123, RW_0585, RW_0105, RW_0090, RW_0146, RW_0643, RW_0530, RW_0653, RW_0328, RW_0145, RW_0622, RW_0331, RW_0665, RW_0047
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)esv2760734
Frequency
Sample Size1109
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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