A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666421



Internal ID9585840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54768864..54827867hg38UCSC Ensembl
Outerchr19:54768493..54828237hg38UCSC Ensembl
Innerchr19:55280316..55339322hg19UCSC Ensembl
Outerchr19:55279945..55339692hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3859745
hg1959748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv668e199
Supporting Variantsessv5999416, essv5894640, essv5656175, essv5803497, essv5992863, essv6156706, essv6590460, essv6209140, essv6012861, essv6545642, essv5777277, essv6590509, essv5476799, essv5547671, essv5541853, essv5468254, essv5528477, essv5756737, essv5466592, essv6371774, essv6164798, essv5437183, essv5952286, essv5854129, essv5684676, essv6052149, essv5680418, essv6013417, essv5426179, essv5490202, essv5629844, essv6304298, essv5901832, essv6404857, essv5802936, essv5596193, essv6399806, essv6287161, essv6144207, essv5967311, essv5614564, essv6463825
SamplesNA19701, NA19700, NA19703, NA19909, NA19914, NA19704, NA20294, NA20332, NA20346, NA20356, NA19920, NA20317, NA19916, NA20287, NA20336, NA19904, NA20291, NA20278, NA19917, NA20340, NA20342, NA20127, NA19985, NA19921, NA19908, NA19707, NA20314, NA19982, NA20126, NA20299, NA20282, NA19625, NA20296, NA19834, NA20276, NA19712, NA19835, NA20281, NA20341, NA20348, NA19711, NA20322
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666421
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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