A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763927



Internal ID10377963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177705442..177833329hg38UCSC Ensembl
Innerchr5:177132443..177260330hg19UCSC Ensembl
Innerchr5:177065049..177192936hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38127888
hg19127888
hg18127888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031699, essv7031700
SamplesSW_1273, SW_1229
Known GenesFAM153A
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)esv2763927
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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