A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030992



Internal ID10371742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:27605934..27632193hg38UCSC Ensembl
Innerchr5:27606041..27632300hg19UCSC Ensembl
Innerchr5:27641798..27668057hg18UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3826260
hg1926260
hg1826260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763897
Supporting Variants
SamplesSW_1416
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)essv7030992
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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