A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760980



Internal ID10377287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173165789..173187769hg38UCSC Ensembl
Innerchr5:172592792..172614772hg19UCSC Ensembl
Innerchr5:172525398..172547378hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3821981
hg1921981
hg1821981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013363, essv7013359, essv7013361, essv7013369, essv7013364, essv7013366, essv7013370, essv7013362, essv7013368, essv7013358, essv7013360, essv7013365
SamplesRW_0585, RW_0644, RW_0348, RW_0093, RW_0006, RW_0098, RW_0500, RW_0608, RW_0054, RW_0664, RW_0562, RW_0190
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)esv2760980
Frequency
Sample Size1109
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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