A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760579



Internal ID10027941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237806187..237866543hg38UCSC Ensembl
Innerchr2:238714830..238775186hg19UCSC Ensembl
Innerchr2:238379569..238439925hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3860357
hg1960357
hg1860357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008726, essv7008727
SamplesRW_0210, RW_0175
Known GenesRAMP1, RBM44
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)esv2760579
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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