A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763737



Internal ID10031087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4601871..4609522hg38UCSC Ensembl
Innerchr3:4643555..4651206hg19UCSC Ensembl
Innerchr3:4618555..4626206hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg387652
hg197652
hg187652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024523, essv7024534, essv7024511
SamplesSW_0646, SW_0197, SW_0828
Known GenesITPR1
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)esv2763737
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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