A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007221



Internal ID10337224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5548233..5554377hg38UCSC Ensembl
Innerchr2:5688365..5694509hg19UCSC Ensembl
Innerchr2:5605816..5611960hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386145
hg196145
hg186145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760649
Supporting Variants
SamplesRW_0148
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)essv7007221
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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