A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678147

Internal ID9597566
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33384461..33387352hg38UCSC Ensembl
chr22:33780447..33783338hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5571564, essv5721607, essv5827976, essv6291638, essv5488324, essv6209880, essv5576218, essv5486067, essv6165837, essv6523737, essv5451175, essv6071617, essv6499645, essv5792007, essv6254073, essv5936830, essv5961011, essv5577605, essv6195450, essv5835900, essv5474807, essv5960799, essv5942789, essv5415075, essv6321828, essv5652878, essv5982375, essv5507568, essv6575584, essv6210051, essv6479442, essv6271510, essv6048964, essv6212538, essv6136075, essv6511806, essv5435962, essv6187450, essv6389853, essv5460842, essv6479204, essv5598169, essv6359898, essv5444701, essv5722398, essv5615499, essv5779568, essv5767377, essv5661405, essv5953281, essv6368406, essv5731427, essv6566678, essv5445225, essv5442531, essv5485150, essv5432261, essv5786719, essv5535585, essv5961088, 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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2678147
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0

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