A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013001



Internal ID10006911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43294028..43305385hg38UCSC Ensembl
Innerchr2:43521167..43532524hg19UCSC Ensembl
Innerchr2:43374671..43386028hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811358
hg1911358
hg1811358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763651
Supporting Variants
SamplesSW_0118
Known GenesTHADA
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)essv7013001
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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