A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668243



Internal ID9934348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75317852..75319210hg38UCSC Ensembl
chr14:75784555..75785913hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv403e199
Supporting Variantsessv5776784, essv5472142, essv6554112, essv6054312, essv5817701, essv5695174, essv6138046, essv5960717, essv6253878, essv6275331, essv5700508, essv6152596, essv6332759, essv5785433, essv6152238, essv5811525, essv6376202, essv5573064, essv6033534, essv5890901, essv5932732, essv5629432, essv6521306, essv5548069, essv5566691, essv6576692, essv6058022, essv5631305, essv5771393, essv6242211, essv6567424
SamplesNA19700, NA19704, NA19350, NA18486, NA18545, NA19920, NA19373, NA18519, NA19315, NA19904, NA19404, NA18868, NA19235, NA19471, NA18867, NA19451, NA19247, NA19437, NA19455, NA18871, NA18907, NA19114, NA19449, NA19390, NA19435, NA19835, NA19334, NA18501, NA19716, NA18873, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668243
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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