A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589936



Internal ID6977266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16842579..16857050hg38UCSC Ensembl
chr2:17023846..17038317hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3814472
hg1914472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10420099, essv10420087, essv10420088, essv10420098, essv10420090, essv10420089, essv10420100, essv10420096, essv10420097, essv10420093, essv10420092, essv10420101, essv10420094, essv10420091, essv10420095
SamplesHG00189, HG00271, HG00173, HG00334, HG00451, HG00281, HG00335, HG00338, HG00268, HG00584, NA18630, NA18632, NA18533, HG00285, HG00308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589936
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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