A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667510



Internal ID9586929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73530612..73557518hg38UCSC Ensembl
Outerchr14:73530141..73557988hg38UCSC Ensembl
Innerchr14:73997316..74024222hg19UCSC Ensembl
Outerchr14:73996845..74024692hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3827848
hg1927848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401e199
Supporting Variantsessv6592310, essv6165066, essv6306938, essv6142892, essv5641097, essv6457648, essv6387857, essv5847116, essv6278312, essv6181149, essv5966260, essv5951498, essv6354780, essv5658464, essv5448594, essv5526554, essv6408673, essv6298052, essv6232498, essv6148489, essv6158076, essv6022217, essv5413387, essv5877092, essv6241839, essv5558432, essv6055966, essv5725370, essv6006299, essv6296504, essv5488872, essv6593562, essv6593857, essv6253720, essv5476143, essv6418887, essv6256252, essv6031618, essv6013813, essv5947605, essv5783599, essv5669151, essv6540645, essv5948829, essv6410294, essv6157015, essv6258827, essv6010944, essv6385113, essv6296625, essv5633997, essv6220183, essv5871684, essv6077529, essv6567022, essv5861892, essv5466462, essv6180930, essv5767949, essv5895069, essv5888553, essv6420606, essv6078198, essv5639274, essv5662429, essv6537965, essv5735479, essv5497766, essv5936649, essv6155660, essv5442979, essv5701215, essv6255244, essv6583397, essv6044100, essv5540005, essv5855228, essv5966998, essv6500185, essv5658911, essv5439379, essv5672636, essv5581982, essv6305819, essv6508181, essv6027561, essv6346211, essv6221749, essv6318536, essv5507415, essv5976148, essv6136144, essv6248209, essv6373756
SamplesHG00189, NA19648, NA19664, HG00361, HG00187, HG00315, HG00318, HG00181, NA19684, HG00179, HG00177, HG00327, HG00271, NA19746, NA19660, NA19762, NA19728, HG00173, NA19723, HG00330, HG00346, NA19771, HG00270, HG00334, NA19782, NA19681, HG00185, HG00281, HG00277, NA19720, NA19651, HG00335, HG00325, HG00309, HG00182, NA19722, HG00338, HG00326, HG00178, HG00323, NA19789, HG00188, NA19657, HG00268, HG00266, HG00176, HG00282, HG00328, HG00368, NA19717, NA19663, NA19788, HG00275, NA19776, NA19654, HG00324, HG00273, NA19774, NA19655, HG00373, HG00331, NA19750, HG00321, NA19761, HG00276, NA19682, NA19756, NA19729, NA19652, HG00336, HG00366, HG00353, HG00375, HG00357, HG00278, NA19773, NA19786, HG00319, HG00269, NA19759, NA19785, HG00329, HG00342, HG00267, HG00310, HG00186, HG00280, NA19726, NA19780, HG00372, HG00274, NA19661, HG00345, NA19676
Known GenesACOT1, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667510
Frequency
Sample Size1151
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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