A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633724



Internal ID7020531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21581135..21590732hg38UCSC Ensembl
chr14:22049269..22058851hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg389598
hg199583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv382e214
Supporting Variantsessv14930655, essv14930659, essv14930654, essv14930653, essv14930656, essv14930651, essv14930650, essv14930652, essv14930649, essv14930657, essv14930658
SamplesHG03366, HG03518, HG02285, NA19171, NA19379, HG03135, NA19247, NA18853, HG02255, HG02667, HG02851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633724
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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