A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661652



Internal ID9581071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57024580..57024856hg38UCSC Ensembl
chr18:54691811..54692087hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6233962, essv6546368, essv6035270, essv6168612, essv5761141, essv6521679, essv5866300, essv6031467, essv6311973, essv5723047, essv6460405, essv5970707, essv5718545, essv5906391, essv5663518, essv5568096, essv6143928, essv5767000, essv5764265, essv6374022, essv6277348, essv6518019, essv5888841, essv5597767, essv6006990, essv5833079, essv6504483, essv5830277, essv6248413, essv5605752, essv6067925, essv5514217, essv6338584, essv5978262, essv5801224, essv5682553, essv5522574, essv6007152, essv5991345, essv5776371, essv6199100, essv6046143, essv5738451, essv5666277, essv5835017, essv6491340, essv6372824, essv5576709, essv6123817, essv6472989, essv5578582, essv6349361, essv5671142, essv5630530, essv6069927, essv6332679, essv5921857, essv5558287, essv6041510, essv5810787, essv6162345, essv6153052, essv5604127, essv6298683, essv5760163, essv6148148, essv6124679, essv5693076, essv6105867, essv6144925, essv5665560, essv6030679, essv5441226, essv6386096, essv5589988, essv6392650
SamplesNA19394, HG00442, HG01173, HG01462, HG00608, NA12286, HG01359, HG00257, HG01051, HG00337, HG00271, HG01350, HG01070, HG00501, HG01351, HG00346, NA12283, HG01083, HG01365, HG00334, HG00139, HG01069, NA19383, HG00335, HG00236, NA18868, HG00232, HG00422, HG01440, NA18990, HG00159, HG01133, HG01353, HG00543, HG00137, HG00328, HG01095, HG00657, HG00475, HG00436, HG00556, NA18637, HG00239, HG00708, HG00651, HG00479, NA20581, HG01101, HG00140, NA19257, NA19452, HG00246, HG01204, NA12043, HG00124, NA19390, NA18543, NA18559, HG00136, HG00278, NA07051, HG01375, HG00607, HG00237, NA19311, NA20544, HG01108, HG00662, NA06986, HG00125, NA19223, NA19093, HG00310, HG00274, HG01082, HG01437
Known GenesWDR7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661652
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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