A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763553



Internal ID10376233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54823181..54955689hg38UCSC Ensembl
Innerchr6:54687979..54820487hg19UCSC Ensembl
Innerchr6:54795938..54928446hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38132509
hg19132509
hg18132509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032100
SamplesSW_0841
Known GenesFAM83B
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)esv2763553
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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