A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673028



Internal ID9939133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76977353..76979392hg38UCSC Ensembl
chr14:77443696..77445735hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5893968, essv6074072, essv5628172, essv6374522, essv6092708, essv5700091, essv5688231, essv6053191, essv5793007, essv6583637, essv5438385, essv5415160, essv5763136, essv6390000, essv6364897, essv6171546, essv6513270, essv6254012, essv5704831, essv5936682, essv6130237, essv6545793, essv5691015, essv6410657, essv5504159, essv6076550, essv5707451, essv5490441, essv6410332
SamplesHG01462, NA18616, NA18633, NA19067, HG01140, HG00663, NA19381, NA19382, NA18574, NA19371, NA20127, NA18614, HG00708, HG00651, HG00690, HG00373, NA18555, NA18634, NA18541, NA19834, NA19380, NA19835, NA19324, HG00662, NA19060, NA18983, NA18989, HG00581, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673028
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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