A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002699



Internal ID10016619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11082819..11088963hg38UCSC Ensembl
Innerchr18:11082818..11088962hg19UCSC Ensembl
Innerchr18:11072818..11078962hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386145
hg196145
hg186145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761991
Supporting Variants
SamplesSW_1068
Known GenesPIEZO2
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)essv7002699
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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