A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640753



Internal ID6680839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50766757..50767142hg38UCSC Ensembl
Innerchr17:50766758..50767142hg38UCSC Ensembl
Outerchr17:50766757..50767143hg38UCSC Ensembl
chr17:48844118..48844503hg19UCSC Ensembl
Innerchr17:48844119..48844503hg19UCSC Ensembl
Outerchr17:48844118..48844504hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15695064, essv15695174, essv15695148, essv15695150, essv15695173, essv15695158, essv15695079, essv15695106, essv15695120, essv15695146, essv15695082, essv15695136, essv15695069, essv15695080, essv15695145, essv15695086, essv15695140, essv15695097, essv15695160, essv15695073, essv15695166, essv15695087, essv15695113, essv15695094, essv15695083, essv15695071, essv15695074, essv15695114, essv15695125, essv15695190, essv15695156, essv15695157, essv15695084, essv15695186, essv15695182, essv15695155, essv15695133, essv15695103, essv15695067, essv15695134, essv15695154, essv15695123, essv15695171, essv15695104, essv15695149, essv15695181, essv15695117, essv15695147, essv15695151, essv15695107, essv15695172, essv15695112, essv15695072, essv15695065, essv15695179, essv15695092, essv15695143, essv15695185, essv15695132, essv15695093, essv15695175, essv15695153, essv15695076, essv15695162, essv15695164, essv15695180, essv15695105, essv15695165, essv15695130, essv15695100, essv15695135, essv15695115, essv15695192, essv15695088, essv15695138, essv15695098, essv15695085, essv15695159, essv15695060, essv15695102, essv15695091, essv15695161, essv15695163, essv15695070, essv15695139, essv15695142, essv15695184, essv15695169, essv15695144, essv15695188, essv15695191, essv15695118, essv15695090, essv15695068, essv15695089, essv15695066, essv15695119, essv15695178, essv15695137, essv15695077, essv15695122, essv15695109, essv15695078, essv15695170, essv15695126, essv15695167, essv15695099, essv15695176, essv15695111, essv15695129, essv15695128, essv15695096, essv15695168, essv15695063, essv15695075, essv15695141, essv15695152, essv15695081, essv15695131, essv15695189, essv15695108, essv15695121, essv15695095, essv15695116, essv15695062, essv15695101, essv15695177, essv15695127, essv15695110, essv15695183, essv15695124, essv15695061, essv15695187
SamplesNA18502, NA20339, NA19141, NA19397, HG02481, NA19914, HG02337, HG03300, HG03241, HG02836, NA18877, HG03455, HG03190, NA18878, HG03139, HG02888, HG02589, HG01461, HG02536, NA18870, NA20356, NA20359, HG03082, NA19171, NA18519, NA19201, HG02810, NA18489, HG03499, NA19119, NA18923, NA19198, HG03485, HG02549, NA18916, HG03105, HG01063, NA19138, NA19384, HG03079, HG02562, HG02143, NA19137, HG02461, NA20412, HG02427, NA19239, NA18864, HG03073, NA20127, NA18908, NA18867, HG03369, NA20318, NA19200, HG00739, HG02716, HG03343, NA19175, NA19391, HG02450, HG01989, NA18910, HG01889, HG01630, HG02555, HG03123, HG01161, NA19114, HG02817, HG02577, NA18499, NA18856, HG01241, HG02884, NA18853, HG02256, HG01679, HG03354, HG02332, NA19160, HG02635, HG02594, HG01990, HG03567, HG02455, NA19309, HG02667, HG02557, NA19834, NA19108, NA19149, HG03437, HG02759, HG01980, HG03367, NA19712, HG03539, HG02546, HG01894, HG02721, HG03117, HG01958, HG02837, NA20362, NA18865, HG03433, HG03127, HG02941, NA19428, HG03304, HG03473, HG03419, HG01342, HG03084, NA19117, HG03039, HG02095, HG03442, HG01912, HG02938, NA19474, HG02107, NA19093, NA19185, NA19430, HG02465, HG02805, HG01886, HG03118, HG02343, HG03166, HG03265
Known GenesLINC00483
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640753
Frequency
Sample Size2504
Observed Gain0
Observed Loss133
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer