A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763194



Internal ID10030544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80205528..80257174hg38UCSC Ensembl
Innerchr18:77963411..78015057hg19UCSC Ensembl
Innerchr18:76064402..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3851647
hg1951647
hg1851628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025283
SamplesRW_0526
Known GenesPARD6G
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)esv2763194
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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