A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013495



Internal ID10334901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:260376..347350hg38UCSC Ensembl
Innerchr6:260376..347350hg19UCSC Ensembl
Innerchr6:205376..292350hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3886975
hg1986975
hg1886975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761026
Supporting Variants
SamplesRW_0090
Known GenesDUSP22
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)essv7013495
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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