A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764267



Internal ID10031617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17671986..17677451hg38UCSC Ensembl
Innerchr1:17998481..18003946hg19UCSC Ensembl
Innerchr1:17871068..17876533hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385466
hg195466
hg185466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005181, essv7005182
SamplesRW_0090, RW_0079
Known GenesARHGEF10L
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)esv2764267
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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