A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012785



Internal ID10342056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50260304..50301693hg38UCSC Ensembl
Innerchr5:49556138..49597527hg19UCSC Ensembl
Innerchr5:49591895..49633284hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3841390
hg1941390
hg1841390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760950
Supporting Variants
SamplesRW_0260
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)essv7012785
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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