A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995652



Internal ID10361290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927525..18939631hg38UCSC Ensembl
Innerchr11:18949072..18961178hg19UCSC Ensembl
Innerchr11:18905648..18917754hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3812107
hg1912107
hg1812107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760244
Supporting Variants
SamplesSW_0875
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)essv6995652
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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