A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304363



Internal ID15151311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726886..122726887hg38UCSC Ensembl
Innerchr3:122726869..122726904hg38UCSC Ensembl
Outerchr3:122726868..122726905hg38UCSC Ensembl
chr3:122445733..122445734hg19UCSC Ensembl
Innerchr3:122445716..122445751hg19UCSC Ensembl
Outerchr3:122445715..122445752hg19UCSC Ensembl
chr3:123928423..123928424hg18UCSC Ensembl
Innerchr3:123928441..123928406hg18UCSC Ensembl
Outerchr3:123928405..123928442hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38130
hg19130
hg18130
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7823821, essv7789561, essv7826636, essv7774726, essv7807923, essv7785997, essv7786586, essv7788078, essv7798489, essv7770212, essv7786968, essv7796225, essv7773011, essv7784092, essv7799364, essv7804022, essv7773535, essv7783114, essv7781929, essv7817130, essv7819141, essv7822138, essv7830338, essv7819914, essv7807196, essv7794869, essv7783890, essv7818679, essv7836414, essv7814367, essv7793115, essv7777099, essv7796674, essv7775179, essv7835798, essv7806512, essv7817772, essv7783255, essv7777734, essv7827986, essv7829507, essv7805152, essv7816875, essv7832947, essv7831218, essv7830526, essv7808517
SamplesNA18502, NA18592, NA18980, NA18561, NA18959, NA18526, NA18510, NA12155, NA18944, NA18940, NA18550, NA18489, NA18960, NA18942, NA18582, NA18571, NA18964, NA18949, NA19238, NA12828, NA18638, NA10847, NA18951, NA18605, NA12489, NA12003, NA18572, NA18537, NA18566, NA18573, NA19114, NA18532, NA19099, NA19225, NA18523, NA18593, NA18608, NA18961, NA18517, NA12874, NA12763, NA18609, NA18505, NA19129, NA12006, NA18562, NA18965
Known GenesPARP14
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304363
Frequency
Sample Size185
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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