A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026192



Internal ID9994124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14580258..14615047hg38UCSC Ensembl
Innerchr20:14560904..14595693hg19UCSC Ensembl
Innerchr20:14508904..14543693hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3834790
hg1934790
hg1834790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763220
Supporting Variants
SamplesRW_0229
Known GenesMACROD2, MACROD2-IT1
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)essv7026192
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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