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Submitted SNP(ss) Details: ss217314463           
Submitter
Handle1000GENOMES
Submitter SNP IDpilot_3_CEU_30_chr1_18025169
RefSNP(rs#)rs478698
Submitted Batch IDpilot_3_CEU_mar_2010
Submitted DateApr 09, 2010
Publication Cited[1] SNP discovery in 1000 Genomes Project Pilot 3: targeted enrichment and exon sequencing for 1000 human genes.
First entry to dbSNPApr 9 2010 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodEXON_CAPTURE_SEQUENCING
Ascertainment Samplesize180
PopulationN.D.
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency Submissionpopulation count: 1
Genotype SummaryN.D.
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
depth.cov:7261

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss217314463|allelePos=201|len=401|taxid=9606|alleles='C/T'|mol=Genomic
 GTGCAGCCTT TCCACCAGGG CCGCCCCTTG CCCGCCAGCG GCAAGACGCT GGAGTTCGCC
 GGCCAGGATC TCTCCGCCTA TCTCCTCAAG AGTCTCTTTA AGGAAGATTG CGATAGACGC
 TGCCTGTTTC AGCTGGAGAC AGTCGCCGTG ACTCAGATGA ACAAGTGCTA CGTGCCGCAG
 AATCTGGGGG AGGCCCTGGA
 Y
 TTTCGTGAGA GGCAGCAGAG TGCCTTGGAT GAGAGCAACA CCTATCAGCT CCCAGACGGC
 TCCCGCGTGG AGCTGACCCC CATGCAGCGG GTGGCTCCTG AGATGTTCTT TAGCCCGCAG
 GTGTTCGAGC AGCCGGGGCC CAGCATCCCA CGGGCCATTG TGGAATCCGT GGAGTCCTGC
 GAGATCTCCC TGCGCCCCCT

  Submitted Frequency for ss217314463 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
pilot_3_CEU_exon_capture_panel
NORTH AMERICA
172C=0.78488398
T=0.21511599
pilot_3_CEU_mar_20101000GENOMES


  dbSNP summary of Genotypes for ss217314463 back to top
No sufficient data to compute Hardy-weinberg probability for ss217314463.


  Submitted individual genotype for ss217314463 back to top
There is no individual genotype data for ss217314463.