A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659040



Internal ID9578459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86725238..86730790hg38UCSC Ensembl
chr4:87646391..87651943hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg385553
hg195553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6072594, essv5756821, essv5705948, essv6439997, essv6371101, essv5504936, essv6129217, essv5902989, essv5561241, essv6535165, essv5678447, essv6122958, essv5495635, essv6430110, essv5639951, essv5730168, essv6581728, essv5443937, essv5850956, essv5466805, essv5405818, essv6154392, essv6314602, essv5795363, essv5926359, essv6288418, essv6138984, essv6575753, essv6197554, essv6577380, essv5494995, essv5922312, essv5547051, essv6355184, essv6436900, essv5639832, essv6062578, essv6197963, essv6542208, essv5441867, essv6108335, essv5825335, essv5552853, essv6286073, essv6525970, essv5616049, essv5744236, essv5945960, essv5950985, essv6153623, essv6275068, essv6001821, essv5448629, essv5865178, essv6595639, essv6153319, essv5688965, essv5400671, essv5669425, essv6128363, essv5509175, essv6159024, essv6577280
SamplesNA19445, HG00318, NA12750, NA07037, NA20809, HG01173, HG00245, HG00596, HG00261, NA20759, HG01197, HG01365, HG00475, HG00326, HG01350, HG00334, HG01204, HG01101, HG00331, HG00737, HG00253, HG00156, NA20340, NA20770, NA20532, HG01107, HG00339, NA20761, HG00158, NA12763, NA18627, HG00337, NA11994, NA12155, HG01061, NA20783, HG00338, HG00150, NA20765, HG00125, NA12400, HG00133, NA19676, NA20760, HG01073, HG01069, HG00116, NA20774, NA19707, HG00151, HG01190, NA20756, NA12889, HG00262, NA20287, NA19434, NA19717, NA20758, NA12045, HG00251, HG00183, HG00143, HG00271
Known GenesPTPN13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659040
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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