A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307335



Internal ID14807597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33633225..33633226hg38UCSC Ensembl
Innerchr5:33633207..33633244hg38UCSC Ensembl
Outerchr5:33633206..33633245hg38UCSC Ensembl
chr5:33633330..33633331hg19UCSC Ensembl
Innerchr5:33633312..33633349hg19UCSC Ensembl
Outerchr5:33633311..33633350hg19UCSC Ensembl
chr5:33669087..33669088hg18UCSC Ensembl
Innerchr5:33669106..33669069hg18UCSC Ensembl
Outerchr5:33669068..33669107hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7813430, essv7775649, essv7794889, essv7779986, essv7778846, essv7803903, essv7806907, essv7826831, essv7816460, essv7773776, essv7798499, essv7773534, essv7830185, essv7779749, essv7811339, essv7789366, essv7797730, essv7793013, essv7827177, essv7780780, essv7802031, essv7832545, essv7787086, essv7790276, essv7824829, essv7819758, essv7835922, essv7812678, essv7792554, essv7771337, essv7783160, essv7789810, essv7796589, essv7772021, essv7772532, essv7793551, essv7810997, essv7805549, essv7788255, essv7805937, essv7822543, essv7791686, essv7817230, essv7786188, essv7798078, essv7785298, essv7823684, essv7783532, essv7835147, essv7772919, essv7812065, essv7815422, essv7778084, essv7818854, essv7822868, essv7826263, essv7823583, essv7777154, essv7793916, essv7781664, essv7783831, essv7801429, essv7827729, essv7770355, essv7787927, essv7820097, essv7820894, essv7791241, essv7831844, essv7800017, essv7820444, essv7808406, essv7794469, essv7798817, essv7790846, essv7779189, essv7819008, essv7780562, essv7795504, essv7834154, essv7796174, essv7803088, essv7821904, essv7776802, essv7776234, essv7799397, essv7814588, essv7832748, essv7816583, essv7781512, essv7784634, essv7800631, essv7809009, essv7809128, essv7778324, essv7824495, essv7812862, essv7817904, essv7831250, essv7807800, essv7802295, essv7774154, essv7804971, essv7825139, essv7788671, essv7811704, essv7774888, essv7813996, essv7770740, essv7775042, essv7828130, essv7804286, essv7806810, essv7810034, essv7784128, essv7807512, essv7835706, essv7776946, essv7829144, essv7815131
SamplesNA19137, NA11881, NA12154, NA12043, NA12489, NA12249, NA18605, NA07347, NA12750, NA07037, NA18951, NA18871, NA18561, NA18523, NA18952, NA19114, NA11920, NA18501, NA19093, NA18526, NA11918, NA18550, NA18570, NA18511, NA12815, NA10847, NA18545, NA18603, NA18948, NA11931, NA18953, NA12828, NA18517, NA18947, NA18573, NA18608, NA18542, NA18489, NA12776, NA07051, NA19257, NA19108, NA18965, NA18505, NA12044, NA12287, NA19147, NA18949, NA12414, NA12763, NA18508, NA12004, NA18566, NA11994, NA12155, NA18576, NA18960, NA18563, NA07357, NA18592, NA18856, NA12761, NA18638, NA18956, NA18547, NA11831, NA11894, NA18973, NA11995, NA18916, NA18593, NA12144, NA12751, NA12006, NA07346, NA12716, NA18537, NA19129, NA19172, NA12892, NA18572, NA19102, NA06986, NA18522, NA19238, NA19005, NA18502, NA18558, NA12872, NA18858, NA18942, NA18961, NA18562, NA18579, NA18940, NA12891, NA10851, NA18582, NA18552, NA19138, NA18907, NA18909, NA12749, NA12156, NA18577, NA19099, NA12878, NA11992, NA12003, NA19225, NA11993, NA18499, NA18571, NA12045, NA11829, NA12717, NA18532, NA18555, NA07000, NA18980
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307335
Frequency
Sample Size185
Observed Gain120
Observed Loss0
Observed Complex0
Frequencyn/a


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