A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991952



Internal ID10360759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148017689..148020170hg38UCSC Ensembl
Innerchr7:147714781..147717262hg19UCSC Ensembl
Innerchr7:147345714..147348195hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382482
hg192482
hg182482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764042
Supporting Variants
SamplesSW_0844
Known GenesCNTNAP2, MIR548F3, MIR548T
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)essv6991952
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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