A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv153e203



Internal ID18985130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148017689..148020170hg38UCSC Ensembl
chr7:147714781..147717262hg19UCSC Ensembl
chr7:147345714..147348195hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382482
hg192482
hg182482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2762708, esv2764042
SamplesSW_0844, SW_1112, RW_0626
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)dgv153e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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