A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009288



Internal ID10365213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4166274..4176429hg38UCSC Ensembl
Innerchr2:4213864..4224019hg19UCSC Ensembl
Innerchr2:4191739..4201894hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3810156
hg1910156
hg1810156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763633
Supporting Variants
SamplesSW_1129
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)essv7009288
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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