A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760109



Internal ID10376417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:58080420..58136199hg38UCSC Ensembl
Innerchr10:59840180..59895960hg19UCSC Ensembl
Innerchr10:59510186..59565966hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3855780
hg1955781
hg1855781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018716, essv7018717, essv7018715
SamplesRW_0181, RW_0142, RW_0060
Known Genes
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)esv2760109
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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