A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004281



Internal ID10359205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221914..13883478hg38UCSC Ensembl
Innerchr21:14594235..15255799hg19UCSC Ensembl
Innerchr21:13516106..14177670hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38661565
hg19661565
hg18661565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763688
Supporting Variants
SamplesSW_0758
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
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)essv7004281
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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