A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761378



Internal ID10028740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146646593..146647191hg38UCSC Ensembl
Innerchr7:146343685..146344283hg19UCSC Ensembl
Innerchr7:145974618..145975216hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991949
SamplesSW_0843
Known GenesCNTNAP2
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)esv2761378
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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