A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657983



Internal ID9577402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14199550..14200453hg38UCSC Ensembl
chr10:14241549..14242452hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38904
hg19904
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657983
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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