A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761122



Internal ID10377429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13824384..13834187hg38UCSC Ensembl
Innerchr7:13864009..13873812hg19UCSC Ensembl
Innerchr7:13830534..13840337hg18UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg389804
hg199804
hg189804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014502, essv7014504, essv7014503, essv7014505
SamplesRW_0189, RW_0232, RW_0275, RW_0550
Known Genes
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)esv2761122
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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