A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005949



Internal ID10331532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108954232..108962290hg38UCSC Ensembl
Innerchr1:109496854..109504912hg19UCSC Ensembl
Innerchr1:109298377..109306435hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg388059
hg198059
hg188059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760082
Supporting Variants
SamplesRW_0002
Known GenesCLCC1
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)essv7005949
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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