A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021843



Internal ID10363399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196114006..196154536hg38UCSC Ensembl
Innerchr2:196978730..197019260hg19UCSC Ensembl
Innerchr2:196686975..196727505hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3840531
hg1940531
hg1840531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763057
Supporting Variants
SamplesSW_1072
Known GenesSTK17B
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)essv7021843
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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