A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760650



Internal ID10028012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46743547..46751739hg38UCSC Ensembl
Innerchr2:46970686..46978878hg19UCSC Ensembl
Innerchr2:46824190..46832382hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388193
hg198193
hg188193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007561, essv7007559, essv7007560
SamplesRW_0204, RW_0110, RW_0533
Known GenesSOCS5
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)esv2760650
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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