A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026329



Internal ID10337426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51821034..51836949hg38UCSC Ensembl
Innerchr20:50437573..50453488hg19UCSC Ensembl
Innerchr20:49870980..49886895hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3815916
hg1915916
hg1815916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763233
Supporting Variants
SamplesRW_0154
Known Genes
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)essv7026329
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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