A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761430



Internal ID10374228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61605421..61961244hg38UCSC Ensembl
Innerchr8:62517980..62873803hg19UCSC Ensembl
Innerchr8:62680534..63036357hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38355824
hg19355824
hg18355824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993194
SamplesSW_1026
Known GenesASPH, MIR4470
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)esv2761430
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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