A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv150e203



Internal ID22760846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72342489..72393726hg38UCSC Ensembl
chr7:71807474..71858711hg19UCSC Ensembl
chr7:71445410..71496647hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3851238
hg1951238
hg1851238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2762678, esv2764059
SamplesSW_1236, RW_0570, SW_0624
Known GenesCALN1
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)dgv150e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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