A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762432



Internal ID10375230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53063727..53076322hg38UCSC Ensembl
Innerchr4:53929894..53942489hg19UCSC Ensembl
Innerchr4:53624651..53637246hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812596
hg1912596
hg1812596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010876
SamplesRW_0218
Known GenesSCFD2
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)esv2762432
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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