A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660230



Internal ID9926335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68583438..68589505hg38UCSC Ensembl
chr16:68617341..68623408hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg386068
hg196068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6410045, essv6000400, essv6497122, essv6418762, essv5544055, essv6312286, essv6549474, essv5800284, essv6094809, essv5457201, essv5582945, essv5952252, essv6331096, essv6038191, essv6308672, essv5572926, essv6492064, essv6442399, essv5600163, essv6146215, essv5899705, essv5872526, essv6540947, essv6355411, essv6169179, essv5964085, essv5548434, essv5472062, essv5413831, essv5455584, essv6250564, essv5894295, essv6194771, essv5597230, essv5676237, essv6418533, essv5839431, essv5696493, essv5953151, essv5565606, essv5699791, essv6401507, essv6214461, essv5725965, essv6083641, essv6471891, essv6570600, essv5603556, essv6389492, essv6582289, essv6439207, essv6415789, essv6580659, essv5663475, essv5571672, essv6573399, essv5786993, essv6345888, essv6176405, essv5879014, essv6167884, essv5747972, essv5447919, essv6181389, essv5915398
SamplesNA20529, NA19466, NA19204, NA19332, NA12414, NA18486, NA19819, NA12004, NA18959, NA20346, NA18510, NA12813, NA18967, NA19396, NA19171, NA19379, NA18489, NA19119, NA19131, NA18916, NA19457, NA19313, NA19404, NA19137, NA19372, NA19471, NA19901, NA18520, NA12828, NA19456, NA18975, NA18867, NA19200, NA19247, NA19437, NA19152, NA19455, NA18910, NA18981, NA19257, NA19469, NA19160, NA18974, NA19440, NA18517, NA19435, NA19144, NA19439, NA19470, NA19311, HG00116, NA20516, NA19360, NA12763, NA19818, NA18971, NA19213, NA18972, NA19900, NA19312, NA18968, NA19429, NA18487, NA19153, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660230
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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