A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761369



Internal ID10028731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134663629..134672068hg38UCSC Ensembl
Innerchr7:134348381..134356820hg19UCSC Ensembl
Innerchr7:133998921..134007360hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg388440
hg198440
hg188440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991365
SamplesSW_0203
Known GenesBPGM
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)esv2761369
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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