A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114e203



Internal ID20126339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12281..75281hg38UCSC Ensembl
chr4:12281..75174hg19UCSC Ensembl
chr4:2281..65174hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3863001
hg1962894
hg1862894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2762386, esv2762381, esv2762389, esv2762391, esv2762390, esv2762380, esv2762395
SamplesRW_0280, RW_0610, RW_0528, RW_0599, RW_0653, RW_0147, RW_0070
Known GenesZNF595, ZNF718
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)dgv114e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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