A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761100



Internal ID10028462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102695340..102841531hg38UCSC Ensembl
Innerchr7:102335787..102481978hg19UCSC Ensembl
Innerchr7:102123023..102269214hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38146192
hg19146192
hg18146192
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014861, essv7014863, essv7014862
SamplesRW_0309, RW_0248, RW_0344
Known GenesFAM185A, FBXL13
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)esv2761100
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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