A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305663



Internal ID14805925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094695..189094696hg38UCSC Ensembl
Innerchr2:189094678..189094713hg38UCSC Ensembl
Outerchr2:189094677..189094714hg38UCSC Ensembl
chr2:189959421..189959422hg19UCSC Ensembl
Innerchr2:189959404..189959439hg19UCSC Ensembl
Outerchr2:189959403..189959440hg19UCSC Ensembl
chr2:189667666..189667667hg18UCSC Ensembl
Innerchr2:189667684..189667649hg18UCSC Ensembl
Outerchr2:189667648..189667685hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7807385, essv7791847, essv7775486, essv7823384, essv7783594, essv7792601, essv7833097, essv7833372, essv7829873, essv7834391, essv7775082, essv7805440, essv7798987, essv7816543, essv7773862, essv7784078, essv7780176, essv7803418, essv7779544, essv7797669, essv7818026, essv7785885, essv7790143, essv7806871, essv7814979, essv7820573, essv7808924, essv7772346, essv7774473, essv7832348, essv7819804, essv7781070, essv7834728, essv7816152, essv7798639, essv7776060, essv7825114, essv7789087, essv7808592, essv7771338, essv7776479, essv7779152, essv7813043, essv7835570, essv7832236, essv7824900, essv7812694, essv7791059, essv7788920, essv7818837, essv7800627, essv7790584, essv7773082, essv7782481, essv7788349, essv7772058, essv7822537, essv7793164, essv7835113, essv7810675, essv7803101, essv7821494, essv7786854, essv7802198, essv7794307, essv7821232, essv7800275, essv7797162, essv7801703, essv7830712, essv7810952, essv7816391, essv7826731, essv7781896, essv7822694, essv7787071, essv7785338, essv7808034, essv7781310, essv7817667, essv7828983, essv7830997, essv7778333, essv7815712, essv7804819, essv7823962, essv7815508, essv7827298, essv7827915, essv7817243, essv7820266, essv7829225, essv7831653, essv7796341, essv7777808, essv7786277, essv7799475, essv7801206, essv7791421, essv7809438, essv7795729, essv7804846, essv7827760, essv7813553, essv7787662, essv7793419, essv7780511, essv7797960, essv7806673, essv7828663, essv7774520, essv7814393, essv7822021, essv7777394, essv7784358
SamplesNA19137, NA11881, NA18870, NA18964, NA12154, NA12043, NA12489, NA12249, NA18605, NA07347, NA12750, NA07037, NA18951, NA18561, NA18523, NA18952, NA19114, NA11920, NA19093, NA18526, NA11918, NA18550, NA18570, NA18545, NA18603, NA18948, NA11931, NA12828, NA18947, NA18608, NA18542, NA18489, NA12776, NA07051, NA19108, NA18505, NA12044, NA12287, NA19147, NA18949, NA19143, NA12414, NA11919, NA12763, NA19239, NA11840, NA12004, NA12155, NA18563, NA07357, NA12873, NA12761, NA18638, NA18956, NA18959, NA18609, NA18547, NA11894, NA18973, NA11995, NA18916, NA18593, NA12234, NA12144, NA18970, NA12751, NA19190, NA12006, NA07346, NA12716, NA18537, NA19129, NA12892, NA18572, NA19102, NA06986, NA19238, NA19005, NA18502, NA18558, NA18564, NA18858, NA18961, NA18562, NA18579, NA18945, NA12891, NA10851, NA18582, NA18552, NA19138, NA18907, NA18909, NA12749, NA12812, NA12156, NA19116, NA19099, NA12878, NA11830, NA11992, NA12003, NA18944, NA11993, NA18499, NA18571, NA12045, NA11829, NA19240, NA12717, NA12874, NA18532, NA18555, NA18519, NA07000
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305663
Frequency
Sample Size185
Observed Gain115
Observed Loss0
Observed Complex0
Frequencyn/a


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