A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014861



Internal ID9997846
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761100
Supporting Variants
SamplesRW_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)essv7014861
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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