A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762434



Internal ID10375232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28633591..28659157hg38UCSC Ensembl
Innerchr2:28856457..28882023hg19UCSC Ensembl
Innerchr2:28709961..28735527hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3825567
hg1925567
hg1825567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010878
SamplesSW_1130
Known GenesPLB1
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)esv2762434
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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