A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763109



Internal ID10375789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227638208..227642539hg38UCSC Ensembl
Innerchr2:228502924..228507255hg19UCSC Ensembl
Innerchr2:228211168..228215499hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384332
hg194332
hg184332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023422
SamplesSW_1273
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)esv2763109
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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