A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646434



Internal ID6686492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14570021..14827408hg38UCSC Ensembl
Innerchr21:14570171..14827258hg38UCSC Ensembl
Outerchr21:14569871..14827558hg38UCSC Ensembl
chr21:15942342..16199729hg19UCSC Ensembl
Innerchr21:15942492..16199579hg19UCSC Ensembl
Outerchr21:15942192..16199879hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38257388
hg19257388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16266314
SamplesHG01889
Known GenesLOC388813, SAMSN1, SAMSN1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646434
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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