A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995152



Internal ID10360458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87237542..87353136hg38UCSC Ensembl
Innerchr10:88997299..89112893hg19UCSC Ensembl
Innerchr10:88987279..89102873hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38115595
hg19115595
hg18115595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764246
Supporting Variants
SamplesSW_0833
Known GenesLOC439994, NUTM2A-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)essv6995152
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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