A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761862



Internal ID10029212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32992512..33020173hg38UCSC Ensembl
Innerchr15:33284713..33312374hg19UCSC Ensembl
Innerchr15:31072005..31099666hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3827662
hg1927662
hg1827662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6999919
SamplesSW_1082
Known GenesFMN1
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)esv2761862
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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