A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307247



Internal ID15154195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31169085..31169086hg38UCSC Ensembl
Innerchr3:31169068..31169103hg38UCSC Ensembl
Outerchr3:31169067..31169104hg38UCSC Ensembl
chr3:31210577..31210578hg19UCSC Ensembl
Innerchr3:31210560..31210595hg19UCSC Ensembl
Outerchr3:31210559..31210596hg19UCSC Ensembl
chr3:31185581..31185582hg18UCSC Ensembl
Innerchr3:31185599..31185564hg18UCSC Ensembl
Outerchr3:31185563..31185600hg18UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7774790, essv7786696, essv7788039, essv7778198, essv7823420, essv7785665, essv7829465, essv7772839, essv7834159, essv7796131, essv7794667, essv7830766, essv7805129, essv7773362, essv7792711, essv7803022, essv7777771, essv7820949, essv7823798, essv7829142, essv7775666, essv7818846, essv7784387, essv7821526, essv7799069, essv7834734, essv7796443, essv7813128, essv7797914, essv7776975, essv7780627, essv7825283, essv7835879, essv7777358, essv7789286, essv7832518, essv7791177, essv7772435, essv7810849, essv7779159, essv7783641, essv7824201, essv7807690, essv7827077, essv7813508, essv7781947, essv7770422, essv7822701, essv7805931, essv7790710, essv7803465
SamplesNA18947, NA18592, NA10851, NA12414, NA18980, NA11920, NA18959, NA12750, NA12155, NA18563, NA19005, NA18944, NA18940, NA18550, NA12812, NA18558, NA18547, NA18960, NA11918, NA18582, NA18571, NA18964, NA18949, NA18970, NA18973, NA12003, NA18956, NA18579, NA18948, NA18537, NA18566, NA19114, NA18532, NA19257, NA18555, NA12144, NA18593, NA18608, NA18542, NA18961, NA18952, NA19147, NA18564, NA07037, NA18609, NA19102, NA18505, NA07000, NA12154, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307247
Frequency
Sample Size185
Observed Gain51
Observed Loss0
Observed Complex0
Frequencyn/a


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