A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020151



Internal ID9989192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85757008..85848575hg38UCSC Ensembl
Innerchr11:85468051..85559618hg19UCSC Ensembl
Innerchr11:85145699..85237266hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3891568
hg1991568
hg1891568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762927
Supporting Variants
SamplesRW_0114
Known GenesSYTL2
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)essv7020151
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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