A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004096



Internal ID10024707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45719923..45749572hg38UCSC Ensembl
Innerchr20:44348562..44378211hg19UCSC Ensembl
Innerchr20:43781976..43811618hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3829650
hg1929650
hg1829643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763671
Supporting Variants
SamplesSW_1404
Known GenesSPINT4
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)essv7004096
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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