A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646400



Internal ID7033144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13834975..13861705hg38UCSC Ensembl
chr21:15207296..15234026hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3826731
hg1926731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16259631, essv16259629, essv16259627, essv16259628, essv16259630, essv16259626, essv16259634, essv16259633, essv16259632
SamplesNA19394, HG03577, HG02840, HG02549, HG02588, HG02136, HG01708, HG03920, HG04098
Known GenesC21orf15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646400
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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