A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995762



Internal ID10366688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927525..18940816hg38UCSC Ensembl
Innerchr11:18949072..18962363hg19UCSC Ensembl
Innerchr11:18905648..18918939hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3813292
hg1913292
hg1813292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760244
Supporting Variants
SamplesSW_1193
Known GenesMRGPRX1
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)essv6995762
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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