A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004026



Internal ID10026895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14804435..14843259hg38UCSC Ensembl
Innerchr20:14785081..14823905hg19UCSC Ensembl
Innerchr20:14733081..14771905hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3838825
hg1938825
hg1838825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763663
Supporting Variants
SamplesSW_1508
Known GenesMACROD2
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)essv7004026
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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