A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763576



Internal ID10030926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73487915..73567526hg38UCSC Ensembl
Innerchr6:74197638..74277249hg19UCSC Ensembl
Innerchr6:74254359..74333970hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3879612
hg1979612
hg1879612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032338
SamplesSW_1398
Known GenesEEF1A1, MTO1
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)esv2763576
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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