A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023411



Internal ID10359944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:224646644..224653265hg38UCSC Ensembl
Innerchr2:225511361..225517982hg19UCSC Ensembl
Innerchr2:225219605..225226226hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg386622
hg196622
hg186622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763108
Supporting Variants
SamplesSW_0805
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)essv7023411
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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