A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337890



Internal ID14838160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094696..189094706hg38UCSC Ensembl
Innerchr2:189094688..189094714hg38UCSC Ensembl
Outerchr2:189094675..189094724hg38UCSC Ensembl
chr2:189959422..189959432hg19UCSC Ensembl
Innerchr2:189959414..189959440hg19UCSC Ensembl
Outerchr2:189959401..189959450hg19UCSC Ensembl
chr2:189667667..189667677hg18UCSC Ensembl
Innerchr2:189667685..189667659hg18UCSC Ensembl
Outerchr2:189667646..189667695hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8910034, essv8910145, essv8910132, essv8910080, essv8910105, essv8910045, essv8910121, essv8910054, essv8910144, essv8910086, essv8910058, essv8910043, essv8910096, essv8910067, essv8910119, essv8910057, essv8910077, essv8910047, essv8910062, essv8910053, essv8910111, essv8910133, essv8910060, essv8910079, essv8910100, essv8910082, essv8910097, essv8910118, essv8910116, essv8910041, essv8910088, essv8910090, essv8910136, essv8910122, essv8910113, essv8910061, essv8910104, essv8910083, essv8910074, essv8910127, essv8910066, essv8910093, essv8910131, essv8910040, essv8910056, essv8910140, essv8910085, essv8910109, essv8910130, essv8910078, essv8910106, essv8910125, essv8910110, essv8910142, essv8910107, essv8910076, essv8910044, essv8910087, essv8910089, essv8910120, essv8910141, essv8910051, essv8910035, essv8910098, essv8910139, essv8910117, essv8910094, essv8910039, essv8910124, essv8910042, essv8910123, essv8910134, essv8910091, essv8910049, essv8910064, essv8910073, essv8910129, essv8910084, essv8910046, essv8910033, essv8910050, essv8910138, essv8910143, essv8910102, essv8910036, essv8910038, essv8910052, essv8910099, essv8910075, essv8910108, essv8910095, essv8910055, essv8910112, essv8910068, essv8910063, essv8910135, essv8910065, essv8910101, essv8910069, essv8910071, essv8910128, essv8910072
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, NA12414, NA11919, NA12763, NA12004, NA12155, NA18563, NA07357, NA12761, NA18638, NA18956, NA18959, NA18609, NA18547, NA11894, NA18973, NA11995, NA18916, NA18593, NA12144, NA12751, NA19190, NA12006, NA07346, NA12716, NA18537, NA19129, NA18572, NA19102, NA06986, NA19005, NA18502, NA18558, NA18564, NA18858, NA18961, NA18562, NA18579, NA18945, NA10851, NA18582, NA18552, NA19138, NA18907, NA18909, NA12749, NA12156, NA19116, NA19099, NA11830, NA11992, NA12003, NA18944, NA11993, NA18499, NA18571, NA12045, NA11829, NA12717, NA18532, NA18555, NA18519, NA07000
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337890
Frequency
Sample Size185
Observed Gain102
Observed Loss0
Observed Complex0
Frequencyn/a


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