A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763674



Internal ID10031024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47160290hg38UCSC Ensembl
Innerchr20:45780106..45788929hg19UCSC Ensembl
Innerchr20:45213513..45222336hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388824
hg198824
hg188824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004100, essv7004098, essv7004099, essv7004103, essv7004102
SamplesSW_1056, SW_1180, SW_0603, SW_0015, SW_1092
Known GenesEYA2
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)esv2763674
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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