A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763958



Internal ID10031308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51445316..51451689hg38UCSC Ensembl
Innerchr10:53205076..53211449hg19UCSC Ensembl
Innerchr10:52875082..52881455hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386374
hg196374
hg186374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994865, essv6994863, essv6994864, essv6994862
SamplesSW_0160, SW_0197, SW_0370, SW_0146
Known GenesPRKG1
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)esv2763958
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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