A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007674



Internal ID10340728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62514032..62533097hg38UCSC Ensembl
Innerchr2:62741167..62760232hg19UCSC Ensembl
Innerchr2:62594671..62613736hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3819066
hg1919066
hg1819066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760551
Supporting Variants
SamplesRW_0226
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)essv7007674
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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