A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762325



Internal ID10375123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:27598847..27611410hg38UCSC Ensembl
Innerchr3:27640338..27652901hg19UCSC Ensembl
Innerchr3:27615342..27627905hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3812564
hg1912564
hg1812564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008937
SamplesRW_0666
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)esv2762325
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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