A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762824



Internal ID10030174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:102900638..103104175hg38UCSC Ensembl
Innerchr9:105662920..105866457hg19UCSC Ensembl
Innerchr9:104702741..104906278hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38203538
hg19203538
hg18203538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017956
SamplesRW_0088
Known GenesCYLC2
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)esv2762824
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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