A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761959



Internal ID10029309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43322294..43565935hg38UCSC Ensembl
Innerchr17:41399657..41643303hg19UCSC Ensembl
Innerchr17:38755183..38998829hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38243642
hg19243647
hg18243647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002143
SamplesSW_0885
Known GenesARL4D, DHX8, ETV4, LINC00910, MIR2117
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)esv2761959
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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