A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673253



Internal ID9592672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165974126..165974437hg38UCSC Ensembl
chr4:166895278..166895589hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5598725, essv6012141, essv6317021, essv5818701, essv6056110, essv5940798, essv6279716, essv5732262, essv5648590, essv5833146, essv6148164, essv6008944, essv6190910, essv5637340, essv5699298, essv5787996, essv5460121, essv6594743, essv6090281, essv6254603, essv6009614, essv5685939, essv6557612, essv6325934, essv5954358, essv6417493, essv6250458, essv6029313, essv6222285, essv5487163, essv6179093, essv6327900, essv6404020, essv5657776, essv6518161, essv6450475, essv5942901, essv6032013, essv6493146, essv6495937, essv5792115, essv6321950, essv5651000, essv5822579, essv6258518, essv6138651, essv6221892, essv6454148, essv6350260, essv5921472, essv6129445, essv6285649, essv5846729, essv6454608, essv5728864, essv6552428, essv5750126, essv6202440, essv5812083, essv5616939, essv6575807, essv5405756, essv6165002, essv6488003, essv6294280, essv5720376, essv6300920, essv6243045, essv6296728, essv5468935
SamplesHG00734, NA19712, NA18520, NA19904, NA18933, NA19404, NA19114, NA18874, NA18501, NA19093, NA19311, NA19469, NA20346, NA19223, NA19435, NA19359, NA19453, NA18517, NA19920, NA19379, NA19236, NA19355, NA19147, NA19463, NA19914, NA18912, NA19383, NA19471, NA19396, NA18856, NA19397, NA19398, NA19440, NA19908, HG01187, NA19457, NA20341, NA19190, NA19213, NA19313, NA19377, NA19395, NA19129, NA19189, NA19372, NA20291, NA19374, NA19703, NA20348, NA19373, NA19384, NA18498, NA19238, NA19901, NA18858, NA19909, NA19707, NA19462, NA19394, NA19403, NA19755, NA19452, NA19225, NA19327, NA18917, HG01108, NA19470, NA19130, NA19240, NA19746
Known GenesTLL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673253
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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