A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647007



Internal ID7033749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38745243..38785700hg38UCSC Ensembl
chr21:40117167..40157624hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3840458
hg1940458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16320718, essv16320723, essv16320724, essv16320722, essv16320717, essv16320728, essv16320732, essv16320719, essv16320726, essv16320730, essv16320721, essv16320720, essv16320733, essv16320725, essv16320731, essv16320729, essv16320734, essv16320727
SamplesNA21127, NA19792, NA20796, HG03905, HG04070, HG03803, HG03624, HG03862, HG02697, NA20901, HG02604, HG03006, NA20851, NA21123, HG04090, HG04015, NA21088, NA21120
Known GenesLINC00114
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647007
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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