A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762497



Internal ID10375295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39313612..39339583hg38UCSC Ensembl
Innerchr2:39540753..39566724hg19UCSC Ensembl
Innerchr2:39394257..39420228hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3825972
hg1925972
hg1825972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012566
SamplesSW_1254
Known GenesMAP4K3
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)esv2762497
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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