A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764054



Internal ID10378090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128288400..128308551hg38UCSC Ensembl
Innerchr7:127928453..127948604hg19UCSC Ensembl
Innerchr7:127715689..127735840hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3820152
hg1920152
hg1820152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991196, essv6991197
SamplesSW_0376, SW_1571
Known GenesMGC27345
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)esv2764054
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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