A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000417



Internal ID10008749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:90296678..90462457hg38UCSC Ensembl
Innerchr15:90839910..91005689hg19UCSC Ensembl
Innerchr15:88640914..88806693hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38165780
hg19165780
hg18165780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761843
Supporting Variants
SamplesSW_0241
Known GenesGABARAPL3, IQGAP1, ZNF774
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)essv7000417
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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