A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003779



Internal ID10366549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80664..128724hg38UCSC Ensembl
Innerchr20:61305..109365hg19UCSC Ensembl
Innerchr20:9305..57365hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3848061
hg1948061
hg1848061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763662
Supporting Variants
SamplesSW_1187
Known GenesDEFB125
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)essv7003779
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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