A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761994



Internal ID10029344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23241557..23257139hg38UCSC Ensembl
Innerchr18:20821521..20837103hg19UCSC Ensembl
Innerchr18:19075519..19091101hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3815583
hg1915583
hg1815583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002705
SamplesSW_1282
Known GenesCABLES1
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)esv2761994
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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