A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2657983

Internal ID9577402
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14199550..14200453hg38UCSC Ensembl
chr10:14241549..14242452hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6077446, essv6168561, essv5766170, essv5886095, essv6009376, essv5723686, essv6423821, essv6131592, essv5613439, essv6486973, essv6449821, essv6559070, essv6508243, essv5557678, essv5898939, essv5755804, essv5491404, essv6123502, essv6075040, essv6481357, essv6274307, essv6237609, essv5632268, essv6453623, essv5694160, essv5454803, essv5543439, essv6437447, essv5788306, essv5814640, essv6537515, essv6535767, essv6341158, essv5532358, essv6304823, essv5907362, essv6090603, essv5745883, essv5696775, essv5907436, essv6118837, essv5820634, essv5609067, essv6133073, essv5895578, essv5878525, essv5988042, essv6356923, essv6525936, essv5453120, essv5799796, essv6083423, essv5872515, essv6023581, essv5493620, essv5811175, essv5439073, essv6202464, essv5991709, essv5604481, essv6448578, essv5415827, essv6087917, essv6595640, essv6147783, essv6005386, essv5622802, essv5574593, essv5823968, essv5567027
SamplesHG00309, HG01515, NA12718, HG00313, NA12249, NA19081, NA11920, HG00171, HG00112, NA10847, NA12340, HG00463, HG00189, NA20800, NA18953, NA19010, HG00375, HG00106, HG00334, NA19685, NA07051, HG00280, NA20322, NA18943, NA18950, HG00188, HG00256, HG00115, HG00154, HG00158, NA19067, HG00421, NA20811, NA19660, HG01124, HG00628, HG00098, NA19066, HG00338, NA12829, NA20520, NA11995, NA19056, HG00357, HG00133, HG00114, HG00436, HG00185, NA18986, NA19005, HG00273, NA19704, NA20814, NA18942, NA19074, NA18619, NA18582, NA06984, HG00311, NA18602, NA18548, NA12399, HG00656, NA19756, NA18574, HG00183, NA19079, NA19087, HG00702, NA19007
Known GenesFRMD4A
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2657983
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0

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