A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346224



Internal ID14846491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42768873..42770171hg38UCSC Ensembl
Innerchr21:42769171..42769873hg38UCSC Ensembl
Outerchr21:42767873..42771171hg38UCSC Ensembl
chr21:44188983..44190281hg19UCSC Ensembl
Innerchr21:44189281..44189983hg19UCSC Ensembl
Outerchr21:44187983..44191281hg19UCSC Ensembl
chr21:43062052..43063350hg18UCSC Ensembl
Innerchr21:43063052..43062350hg18UCSC Ensembl
Outerchr21:43061052..43064350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692712
SamplesNA19240
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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