A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013676



Internal ID9992134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57946158..58051320hg38UCSC Ensembl
Innerchr6:58272436..58377598hg19UCSC Ensembl
Innerchr6:58380395..58485557hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38105163
hg19105163
hg18105163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760987
Supporting Variants
SamplesRW_0187
Known GenesGUSBP4
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)essv7013676
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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