A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762472



Internal ID10029822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:164147582..164241561hg38UCSC Ensembl
Innerchr4:165068734..165162713hg19UCSC Ensembl
Innerchr4:165288184..165382163hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3893980
hg1993980
hg1893980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012127
SamplesRW_0506
Known GenesANP32C, MARCH1
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)esv2762472
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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