A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596165



Internal ID6983482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53012572..53013781hg38UCSC Ensembl
Innerchr3:53012572..53013781hg38UCSC Ensembl
Outerchr3:53012274..53014129hg38UCSC Ensembl
chr3:53046588..53047797hg19UCSC Ensembl
Innerchr3:53046588..53047797hg19UCSC Ensembl
Outerchr3:53046290..53048145hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11014057, essv11014084, essv11014065, essv11014054, essv11014050, essv11014091, essv11014044, essv11014062, essv11014040, essv11014086, essv11014046, essv11014053, essv11014096, essv11014041, essv11014052, essv11014056, essv11014042, essv11014105, essv11014047, essv11014087, essv11014092, essv11014100, essv11014104, essv11014068, essv11014067, essv11014072, essv11014089, essv11014055, essv11014074, essv11014048, essv11014078, essv11014069, essv11014080, essv11014083, essv11014073, essv11014097, essv11014099, essv11014101, essv11014059, essv11014058, essv11014102, essv11014103, essv11014075, essv11014060, essv11014093, essv11014095, essv11014077, essv11014045, essv11014082, essv11014071, essv11014043, essv11014081, essv11014066, essv11014079, essv11014063, essv11014090, essv11014098, essv11014070, essv11014061, essv11014064, essv11014094, essv11014051, essv11014049, essv11014076, essv11014088, essv11014085
SamplesHG02339, HG01054, HG03163, HG03517, NA18507, HG02337, HG02323, NA19355, HG03100, HG03193, HG03139, NA19098, NA19107, NA18519, NA19319, HG03099, NA18916, HG01083, NA19038, HG02281, NA20340, HG03195, NA19036, HG03380, NA18908, NA19451, NA19200, HG02442, NA18934, NA19403, NA19175, HG03291, HG02511, NA19327, HG02108, HG01889, HG03294, HG03311, HG01073, NA19449, HG03136, HG03202, NA19452, HG01890, HG02255, NA19017, HG03028, NA19147, HG03367, NA19019, HG02721, HG01551, NA19037, HG02314, NA19428, NA19310, NA20281, NA19360, HG03108, NA19117, HG03279, HG03258, NA19900, HG02052, HG01464, HG03196
Known GenesSFMBT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596165
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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