A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761074



Internal ID10377381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12477851..12526574hg38UCSC Ensembl
Innerchr7:12517477..12566200hg19UCSC Ensembl
Innerchr7:12484002..12532725hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3848724
hg1948724
hg1848724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014480, essv7014485, essv7014479, essv7014484, essv7014483, essv7014482, essv7014481
SamplesRW_0268, RW_0577, RW_0575, RW_0065, RW_0513, RW_0621, RW_0191
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)esv2761074
Frequency
Sample Size1109
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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