A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657596



Internal ID9923701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55284466..55285324hg38UCSC Ensembl
chr14:55751184..55752042hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6437527, essv5898887, essv5867280, essv6201142, essv6054735, essv5910917, essv6312221, essv6135214, essv5525264, essv5509461, essv5801757, essv6524413, essv5847079, essv6155585, essv5469317, essv6499405, essv5800337, essv5447996, essv5917181, essv6382902, essv6353529, essv5788385, essv5658485, essv5401410, essv6400198, essv6253722, essv6307909, essv5428250, essv6220335, essv5411003, essv6067026, essv5757277, essv5880979, essv6120360, essv5651799, essv6431581, essv5913946, essv5486241, essv6534621, essv5859487, essv6074489, essv5820324, essv6584952, essv5788504, essv5449602, essv5396378, essv6551167, essv5851411, essv5607521, essv5791949, essv6128397, essv6094008, essv5425203, essv6491959, essv6506997, essv5714981, essv6193630, essv5543252, essv6230657, essv6527176, essv6233204
SamplesNA20508, NA19664, NA12273, HG01052, HG01079, NA11933, NA20816, NA20802, HG00318, NA20507, NA12400, HG01522, NA20798, HG01167, NA18567, NA18618, HG00736, HG00346, HG00247, HG00270, HG01365, NA20287, NA12761, HG00281, NA12275, HG01069, HG01080, HG01072, HG01198, HG01133, HG00326, HG01183, HG00183, NA12342, HG00190, HG00740, HG01390, HG01102, HG01383, NA19652, HG00254, HG00336, HG00136, NA20804, NA19773, HG01174, NA20790, NA20527, NA20797, HG00329, NA12830, HG00186, NA20826, NA19755, HG01082, HG00171, HG01097, HG00180, HG01437, HG01061, NA19676
Known GenesFBXO34
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657596
Frequency
Sample Size1151
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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