A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763214



Internal ID10030564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:6753213..7218258hg38UCSC Ensembl
Innerchr3:6794900..7259945hg19UCSC Ensembl
Innerchr3:6769900..7234945hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38465046
hg19465046
hg18465046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026122
SamplesSW_0198
Known GenesGRM7
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)esv2763214
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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