A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660046



Internal ID9926151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21525082..21526988hg38UCSC Ensembl
Outerchr14:21524711..21527358hg38UCSC Ensembl
Innerchr14:21993216..21995122hg19UCSC Ensembl
Outerchr14:21992845..21995492hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5652597, essv5938963, essv5973712, essv5700813, essv5762387, essv6057728, essv5629244, essv5413208, essv6089361, essv6090290, essv6533244, essv6145905, essv5640281, essv6183936, essv6533649, essv6550051, essv6362441, essv6277290, essv5411080, essv6016159, essv5857064, essv6575521, essv5890250, essv6510043, essv5987946, essv6306290, essv5830864, essv5501957, essv6186257, essv6500694, essv5737198, essv6005880, essv5549034, essv6561741, essv6185208, essv6049128, essv5634625, essv5867555, essv5409833, essv5511675, essv6124360, essv6502447, essv5710595, essv5617951, essv5933566, essv5483384, essv6575748, essv5920160, essv6439335, essv5679357, essv6367747, essv5644427, essv6437765, essv6541682, essv6408168
SamplesNA19701, NA19648, NA19700, NA19703, NA19909, NA19664, NA19704, NA19819, NA19684, NA19660, NA19762, NA19728, NA19678, NA19723, NA19916, NA19771, NA19681, NA20336, NA19904, NA19720, NA19651, NA19917, NA19719, NA19722, NA19901, NA19725, NA19985, NA19921, NA19657, NA19707, NA19717, NA19663, NA19982, NA19654, NA19655, NA19682, NA19625, NA19675, NA19685, NA19652, NA19834, NA19712, NA19835, NA19679, NA20281, NA19818, NA19716, NA19713, NA19726, NA19780, NA19711, NA19900, NA19661, NA19755, NA19676
Known GenesSALL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660046
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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