A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763946



Internal ID10031296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:93769876..93880211hg38UCSC Ensembl
Innerchr6:94479594..94589929hg19UCSC Ensembl
Innerchr6:94536315..94646650hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38110336
hg19110336
hg18110336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032992, essv7032991, essv7032993
SamplesSW_0691, SW_1228, SW_1503
Known GenesTSG1
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)esv2763946
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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