A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004273



Internal ID10362127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080541..13775809hg38UCSC Ensembl
Innerchr21:14452862..15148130hg19UCSC Ensembl
Innerchr21:13374733..14070001hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38695269
hg19695269
hg18695269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763688
Supporting Variants
SamplesSW_1026
Known GenesANKRD30BP2, 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)essv7004273
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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