A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762860



Internal ID10030210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44915717..44917508hg38UCSC Ensembl
Innerchr10:45411165..45412956hg19UCSC Ensembl
Innerchr10:44731171..44732962hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381792
hg191792
hg181792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018309
SamplesRW_0209
Known GenesTMEM72, TMEM72-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)esv2762860
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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