A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761174



Internal ID10377481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:84380336..84430526hg38UCSC Ensembl
Innerchr8:85292571..85342761hg19UCSC Ensembl
Innerchr8:85455126..85505316hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3850191
hg1950191
hg1850191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017042, essv7017045, essv7017043
SamplesRW_0268, RW_0346, RW_0060
Known GenesRALYL
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)esv2761174
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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