A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763515



Internal ID10376195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163794203..163802192hg38UCSC Ensembl
Innerchr5:163221209..163229198hg19UCSC Ensembl
Innerchr5:163153787..163161776hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387990
hg197990
hg187990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031684
SamplesSW_0787
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)esv2763515
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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