A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013674



Internal ID10001724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57946158..58032364hg38UCSC Ensembl
Innerchr6:58272436..58358642hg19UCSC Ensembl
Innerchr6:58380395..58466601hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg3886207
hg1986207
hg1886207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760987
Supporting Variants
SamplesRW_0590
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)essv7013674
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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