A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020399



Internal ID10016848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177551666..177617090hg38UCSC Ensembl
Innerchr2:178416394..178481818hg19UCSC Ensembl
Innerchr2:178124640..178190064hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3865425
hg1965425
hg1865425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762964
Supporting Variants
SamplesSW_1076
Known GenesTTC30A, TTC30B
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)essv7020399
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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