A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030863



Internal ID10354932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:15718383..15723376hg38UCSC Ensembl
Innerchr5:15718492..15723485hg19UCSC Ensembl
Innerchr5:15771492..15776485hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg384994
hg194994
hg184994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763894
Supporting Variants
SamplesSW_0198
Known GenesFBXL7
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)essv7030863
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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