A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031952



Internal ID10025581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26737024..26995155hg38UCSC Ensembl
Innerchr6:26752036..26962934hg19UCSC Ensembl
Innerchr6:26860015..27070913hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38258132
hg19210899
hg18210899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763937
Supporting Variants
SamplesSW_1436
Known GenesGUSBP2, LINC00240
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)essv7031952
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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