A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760460



Internal ID10376768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:71551162..71602757hg38UCSC Ensembl
Innerchr17:69547303..69598898hg19UCSC Ensembl
Innerchr17:67058898..67110493hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3851596
hg1951596
hg1851596
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024810, essv7024808, essv7024809
SamplesRW_0217, RW_0179, RW_0122
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)esv2760460
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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