A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763587



Internal ID10030937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:100829998..101062615hg38UCSC Ensembl
Innerchr6:101277874..101510491hg19UCSC Ensembl
Innerchr6:101384595..101617212hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38232618
hg19232618
hg18232618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033007
SamplesSW_0791
Known GenesASCC3
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)esv2763587
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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