A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764185



Internal ID10031535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216352551..216364106hg38UCSC Ensembl
Innerchr1:216525893..216537448hg19UCSC Ensembl
Innerchr1:214592516..214604071hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3811556
hg1911556
hg1811556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006981, essv7006982
SamplesRW_0508, RW_0088
Known GenesUSH2A
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)esv2764185
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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