A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026427



Internal ID10348576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13092058..13714985hg38UCSC Ensembl
Innerchr21:14464379..15087306hg19UCSC Ensembl
Innerchr21:13386250..14009177hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38622928
hg19622928
hg18622928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760689
Supporting Variants
SamplesRW_0594
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, 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)essv7026427
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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