A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019453



Internal ID10331666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927525..18940441hg38UCSC Ensembl
Innerchr11:18949072..18961988hg19UCSC Ensembl
Innerchr11:18905648..18918564hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3812917
hg1912917
hg1812917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760214
Supporting Variants
SamplesRW_0004
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)essv7019453
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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