A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015519



Internal ID10342803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144220508..144369854hg38UCSC Ensembl
Innerchr7:143917601..144066947hg19UCSC Ensembl
Innerchr7:143548534..143697880hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38149347
hg19149347
hg18149347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761101
Supporting Variants
SamplesRW_0278
Known GenesARHGEF34P, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)essv7015519
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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