A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013680



Internal ID10004666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57975319..57989462hg38UCSC Ensembl
Innerchr6:58301597..58315740hg19UCSC Ensembl
Innerchr6:58409556..58423699hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg3814144
hg1914144
hg1814144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760987
Supporting Variants
SamplesRW_0667
Known Genes
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)essv7013680
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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