A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004913



Internal ID10337704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4968156..4995803hg38UCSC Ensembl
Innerchr1:5028216..5055863hg19UCSC Ensembl
Innerchr1:4928076..4955723hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3827648
hg1927648
hg1827648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764243
Supporting Variants
SamplesRW_0164
Known Genes
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)essv7004913
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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