A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763543



Internal ID10030893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:24950971..24951581hg38UCSC Ensembl
Innerchr6:24951199..24951809hg19UCSC Ensembl
Innerchr6:25059178..25059788hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031915
SamplesSW_0030
Known GenesFAM65B
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)esv2763543
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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