A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024534



Internal ID10013590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4602953..4609522hg38UCSC Ensembl
Innerchr3:4644637..4651206hg19UCSC Ensembl
Innerchr3:4619637..4626206hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg386570
hg196570
hg186570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763737
Supporting Variants
SamplesSW_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)essv7024534
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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