A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761071



Internal ID10028433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2771704..2783299hg38UCSC Ensembl
Innerchr7:2811338..2822933hg19UCSC Ensembl
Innerchr7:2777864..2789459hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3811596
hg1911596
hg1811596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014413, essv7014414
SamplesRW_0201, RW_0262
Known GenesGNA12
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)esv2761071
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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