A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416759



Internal ID15263717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40027174..40036938hg38UCSC Ensembl
Innerchr21:40029164..40035358hg38UCSC Ensembl
Outerchr21:40027064..40037058hg38UCSC Ensembl
chr21:41399101..41408865hg19UCSC Ensembl
Innerchr21:41401091..41407285hg19UCSC Ensembl
Outerchr21:41398991..41408985hg19UCSC Ensembl
chr21:40320971..40330735hg18UCSC Ensembl
Innerchr21:40322961..40329155hg18UCSC Ensembl
Outerchr21:40320861..40330855hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg389765
hg199765
hg189765
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809021
SamplesNA12878
Known GenesDSCAM
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416759
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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