A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760385



Internal ID10376693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:59214229..59221448hg38UCSC Ensembl
Innerchr15:59506428..59513647hg19UCSC Ensembl
Innerchr15:57293720..57300939hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg387220
hg197220
hg187220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023342, essv7023341
SamplesRW_0546, RW_0530
Known GenesMYO1E
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)esv2760385
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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