A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671621



Internal ID9937726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43152910..43157516hg38UCSC Ensembl
Outerchr22:43152539..43157886hg38UCSC Ensembl
Innerchr22:43548916..43553522hg19UCSC Ensembl
Outerchr22:43548545..43553892hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385348
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6067660, essv5532620, essv5808502, essv6259017, essv5562616, essv6441856, essv5473360, essv5619477, essv6224766, essv5632499, essv6292433, essv6364708, essv5893710, essv5439719, essv6008413, essv5696334, essv5708313, essv5652113, essv6167217, essv6566254, essv5671376, essv5830513, essv6070696, essv6304032, essv6383640, essv6157914, essv6464338, essv5855895, essv6154478, essv6565027, essv5825029, essv6418858, essv6218198, essv5924025, essv5462185, essv6016577, essv6295604, essv5810586, essv5489719, essv5584778, essv6304567, essv5591077, essv5574872, essv6172781, essv5477944, essv6336300, essv5975453, essv5518033, essv5713264, essv5887889, essv5414804, essv6252277, essv5500437, essv6562562, essv6035168, essv5696598, essv6244300, essv5448547, essv5605574, essv5993395, essv5942575, essv6335429, essv5848478, essv5919624, essv5982605, essv6048743, essv5711503, essv5398488
SamplesHG00257, HG00315, HG00318, HG00244, HG00181, HG00261, HG00337, HG00327, HG00271, HG00272, HG00122, HG00346, HG00247, HG00270, HG00334, HG00185, HG00243, HG00158, HG00281, HG00277, HG00335, HG00106, HG00236, HG00156, HG00160, HG00338, HG00326, HG00323, HG00253, HG00260, HG00313, HG00137, HG00154, HG00266, HG00183, HG00282, HG00328, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00250, HG00140, HG01334, HG00146, HG00246, HG00254, HG00336, HG00285, HG00353, HG00237, HG00319, HG00256, HG00339, HG00125, HG00259, HG00329, HG00342, HG00310, HG00186, HG00280, HG00131, HG00343, HG00274, HG00252, HG00345
Known GenesTSPO
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671621
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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