A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008111



Internal ID10362333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4158097..4182472hg38UCSC Ensembl
Innerchr2:4205687..4230062hg19UCSC Ensembl
Innerchr2:4183562..4207937hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3824376
hg1924376
hg1824376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763633
Supporting Variants
SamplesSW_1032
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)essv7008111
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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