A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008593



Internal ID10350536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202431052..202447478hg38UCSC Ensembl
Innerchr2:203295775..203312201hg19UCSC Ensembl
Innerchr2:203004020..203020446hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3816427
hg1916427
hg1816427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760604
Supporting Variants
SamplesRW_0644
Known GenesBMPR2
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)essv7008593
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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