A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763837



Internal ID10031187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150743286..151150736hg38UCSC Ensembl
Innerchr4:151664438..152071888hg19UCSC Ensembl
Innerchr4:151883888..152291338hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38407451
hg19407451
hg18407451
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030180, essv7030182, essv7030178, essv7030181, essv7030183
SamplesSW_0239, SW_0185, SW_0570, SW_0004, SW_0775
Known GenesLRBA, RPS3A, SH3D19, SNORD73A
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)esv2763837
Frequency
Sample Size1109
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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