A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763550



Internal ID10376230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45219088..45307856hg38UCSC Ensembl
Innerchr6:45186825..45275593hg19UCSC Ensembl
Innerchr6:45294803..45383571hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3888769
hg1988769
hg1888769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032080
SamplesSW_1288
Known GenesSUPT3H
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)esv2763550
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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