A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678147



Internal ID9597566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33384461..33387352hg38UCSC Ensembl
chr22:33780447..33783338hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5571564, essv5721607, essv6291638, essv5827976, essv5488324, essv6209880, essv5576218, essv5486067, essv6165837, essv6523737, essv5451175, essv6071617, essv6499645, essv5792007, essv6254073, essv5936830, essv5961011, essv5835900, essv6195450, essv5577605, essv5474807, essv5960799, essv5942789, essv5415075, essv6321828, essv5652878, essv5982375, essv5507568, essv6575584, essv6210051, essv6479442, essv6271510, essv6048964, essv6212538, essv6511806, essv6136075, essv5435962, essv6187450, essv6389853, essv5460842, essv6479204, essv5598169, essv6359898, essv5444701, essv5722398, essv5615499, essv5767377, essv5779568, essv5661405, essv5953281, essv6368406, essv5731427, essv6566678, essv5445225, essv5442531, essv5485150, essv5432261, essv5535585, essv5961088, essv5786719, essv6328129, essv6578411, essv5905205, essv6009791, essv6283483, essv5893796, essv5858173, essv6273243
SamplesNA12043, NA19436, HG00257, NA12748, NA11930, NA12342, HG00145, HG01173, HG00160, NA11918, HG01051, NA20808, HG01082, HG00106, NA20588, NA19648, NA19701, HG00247, HG00154, HG00339, NA19982, NA12843, NA20533, NA20515, NA12383, HG01378, NA12273, HG00330, HG00258, HG00637, NA20589, HG00237, HG00159, HG01465, HG01066, NA12348, NA19713, HG00265, NA20774, HG00246, NA18910, NA20813, HG00236, HG01149, HG01094, NA10851, NA20534, NA12272, NA12749, NA06984, HG00262, HG00311, NA11992, HG00285, NA11993, HG00142, HG01108, NA11932, HG01125, HG00320, HG00641, HG01462, NA18908, NA20524, NA20772, HG00271, HG01067, HG00312
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678147
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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