A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008517



Internal ID10344296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202428236..202453872hg38UCSC Ensembl
Innerchr2:203292959..203318595hg19UCSC Ensembl
Innerchr2:203001204..203026840hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3825637
hg1925637
hg1825637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760604
Supporting Variants
SamplesRW_0331
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)essv7008517
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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