A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000420



Internal ID10016084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:94235856..94285033hg38UCSC Ensembl
Innerchr15:94779085..94828262hg19UCSC Ensembl
Innerchr15:92580089..92629266hg18UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg3849178
hg1949178
hg1849178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761821
Supporting Variants
SamplesSW_1051
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)essv7000420
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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