A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763122



Internal ID10375802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:96751003..96773593hg38UCSC Ensembl
Innerchr15:97294233..97316823hg19UCSC Ensembl
Innerchr15:95095237..95117827hg18UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg3822591
hg1922591
hg1822591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023543
SamplesRW_0205
Known GenesSPATA8-AS1
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)esv2763122
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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