A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761146



Internal ID10028508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50907760..51889323hg38UCSC Ensembl
Innerchr7:50975457..51957019hg19UCSC Ensembl
Innerchr7:50942951..51924513hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38981564
hg19981563
hg18981563
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014626, essv7014625, essv7014624
SamplesRW_0533, RW_0004, RW_0599
Known GenesCOBL
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)esv2761146
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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