A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004270



Internal ID10357005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13053568..13198253hg38UCSC Ensembl
Innerchr21:14425889..14570574hg19UCSC Ensembl
Innerchr21:13347760..13492445hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38144686
hg19144686
hg18144686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763688
Supporting Variants
SamplesSW_0581
Known GenesANKRD30BP2
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)essv7004270
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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