A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028573



Internal ID10007878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148275..189740hg38UCSC Ensembl
Innerchr4:142059..183529hg19UCSC Ensembl
Innerchr4:132059..173529hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3841466
hg1941471
hg1841471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763816
Supporting Variants
SamplesSW_0176
Known GenesZNF718
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)essv7028573
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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