A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030209



Internal ID10014284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152675420..152901142hg38UCSC Ensembl
Innerchr4:153596572..153822294hg19UCSC Ensembl
Innerchr4:153816022..154041744hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38225723
hg19225723
hg18225723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763399
Supporting Variants
SamplesSW_0859
Known GenesARFIP1, TIGD4, TMEM154
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)essv7030209
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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