A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004287



Internal ID10365666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14534899..14558233hg38UCSC Ensembl
Innerchr21:15907220..15930554hg19UCSC Ensembl
Innerchr21:14829091..14852425hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3823335
hg1923335
hg1823335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763685
Supporting Variants
SamplesSW_1148
Known GenesSAMSN1
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)essv7004287
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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