A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760594



Internal ID10376901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70126..246301hg38UCSC Ensembl
Innerchr2:70126..246301hg19UCSC Ensembl
Innerchr2:60126..236301hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38176176
hg19176176
hg18176176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007190, essv7007187, essv7007186
SamplesRW_0559, RW_0025, RW_0543
Known GenesSH3YL1
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)esv2760594
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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