A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015526



Internal ID10350279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144220508..144378810hg38UCSC Ensembl
Innerchr7:143917601..144075903hg19UCSC Ensembl
Innerchr7:143548534..143706836hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38158303
hg19158303
hg18158303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761101
Supporting Variants
SamplesRW_0635
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)essv7015526
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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