A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305830



Internal ID14806092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162822106..162822107hg38UCSC Ensembl
Innerchr2:162822089..162822124hg38UCSC Ensembl
Outerchr2:162822088..162822125hg38UCSC Ensembl
chr2:163678616..163678617hg19UCSC Ensembl
Innerchr2:163678599..163678634hg19UCSC Ensembl
Outerchr2:163678598..163678635hg19UCSC Ensembl
chr2:163386862..163386863hg18UCSC Ensembl
Innerchr2:163386880..163386845hg18UCSC Ensembl
Outerchr2:163386844..163386881hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7801904, essv7771128, essv7794314, essv7770216, essv7832312, essv7775018, essv7804763, essv7780348, essv7810847, essv7827771, essv7771498, essv7791600, essv7814867, essv7788889, essv7774476, essv7834560, essv7779072, essv7828815, essv7775571, essv7822163, essv7813149, essv7833539, essv7790546, essv7783379, essv7796981, essv7807532, essv7819403, essv7797845, essv7820813, essv7776523, essv7803205, essv7801198, essv7822709, essv7817181, essv7774587, essv7831819, essv7779937, essv7793860, essv7822041, essv7829626, essv7800955, essv7828092, essv7782816, essv7773557, essv7793495, essv7833796, essv7811145, essv7784957, essv7786731, essv7805164, essv7823609, essv7799008, essv7797298, essv7819851, essv7790006, essv7807878, essv7773104, essv7803508, essv7834031, essv7816304, essv7783816, essv7809583, essv7796359, essv7826653, essv7817709, essv7814687, essv7779472, essv7827474, essv7819943, essv7811832, essv7782768, essv7835461, essv7800047, essv7802470, essv7791009, essv7815238, essv7824789, essv7834806, essv7788384, essv7810322, essv7829538, essv7782010, essv7823823, essv7777636, essv7836066
SamplesNA11881, NA18870, NA12154, NA12043, NA18605, NA07347, NA07037, NA18871, NA18523, NA18952, NA11918, NA18550, NA18570, NA10847, NA18545, NA18603, NA18948, NA12828, NA18947, NA18573, NA18608, NA18542, NA12776, NA19108, NA12044, NA18943, NA18949, NA19143, NA12414, NA12004, NA18566, NA11994, NA12155, NA18576, NA18960, NA12873, NA12814, NA12761, NA18638, NA18956, NA18959, NA18609, NA18547, NA11831, NA18973, NA11995, NA18593, NA12234, NA18970, NA12751, NA12006, NA07346, NA12716, NA18537, NA19129, NA12892, NA18572, NA18498, NA19102, NA06986, NA19238, NA18564, NA18961, NA18579, NA18940, NA12891, NA10851, NA18582, NA18552, NA19138, NA18907, NA12156, NA19116, NA12878, NA11830, NA11992, NA12003, NA11993, NA18571, NA12045, NA11829, NA12717, NA12874, NA18555, NA07000
Known GenesKCNH7
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305830
Frequency
Sample Size185
Observed Gain85
Observed Loss0
Observed Complex0
Frequencyn/a


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