A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763623



Internal ID10376303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12737580..12773835hg38UCSC Ensembl
Innerchr7:12777205..12813460hg19UCSC Ensembl
Innerchr7:12743730..12779985hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3836256
hg1936256
hg1836256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033393
SamplesSW_1004
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)esv2763623
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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