A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763386



Internal ID10030736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119222706..119265813hg38UCSC Ensembl
Innerchr4:120143861..120186968hg19UCSC Ensembl
Innerchr4:120363309..120406416hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3843108
hg1943108
hg1843108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029997
SamplesSW_0243
Known GenesUSP53
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)esv2763386
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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