A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994659



Internal ID10015437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44712577..44862350hg38UCSC Ensembl
Innerchr10:45208025..45357798hg19UCSC Ensembl
Innerchr10:44528031..44677804hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38149774
hg19149774
hg18149774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760155
Supporting Variants
SamplesSW_1026
Known GenesTMEM72-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)essv6994659
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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