A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375500



Internal ID15222475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41012256..41013954hg38UCSC Ensembl
Innerchr21:41012954..41013256hg38UCSC Ensembl
Outerchr21:41011256..41014954hg38UCSC Ensembl
chr21:42384182..42385880hg19UCSC Ensembl
Innerchr21:42384880..42385182hg19UCSC Ensembl
Outerchr21:42383182..42386880hg19UCSC Ensembl
chr21:41306052..41307750hg18UCSC Ensembl
Innerchr21:41307052..41306750hg18UCSC Ensembl
Outerchr21:41305052..41308750hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692691
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375500
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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