A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv946e199



Internal ID22758719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:59421729..59430602hg38UCSC Ensembl
chr4:60287447..60296320hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg388874
hg198874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661442, esv2656876
SamplesNA19701, HG01441, NA19703, HG01079, NA18545, NA12004, HG01456, NA18530, NA18606, HG01518, NA19190, NA18870, NA18526, NA12155, NA12341, NA18563, HG00501, NA19678, HG01488, HG00702, HG00689, NA18923, NA18635, NA19916, NA19313, HG01083, HG00334, NA19384, NA19404, HG00512, NA19651, NA20775, HG01495, NA19137, NA19901, NA18908, HG01124, HG00543, NA19247, NA19070, HG00732, NA19982, HG00533, HG00740, HG00690, HG00531, NA18499, HG00613, NA18523, NA19395, NA18953, HG00336, NA19834, NA19473, NA18950, HG00734, NA19435, NA19380, HG01174, HG00607, HG01137, HG01489, HG01342, NA18631, HG00259, HG00656, NA19716, NA19713, HG00123, NA19780, NA20528, HG00274, HG01377, NA19004, HG00628, NA12006, NA19065, NA19153, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv946e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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