A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764244



Internal ID10031594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66158804..66163939hg38UCSC Ensembl
Innerchr1:66624487..66629622hg19UCSC Ensembl
Innerchr1:66397075..66402210hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385136
hg195136
hg185136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005403, essv7005405, essv7005402, essv7005404
SamplesRW_0234, RW_0189, RW_0088, RW_0540
Known GenesPDE4B
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)esv2764244
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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