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Submitted SNP(ss) Details: ss78643137           
Submitter
HandleHGSV
Submitter SNP IDCor12878_SNV_20070510.chr1_792584
RefSNP(rs#)rs3131972
Submitted Batch IDNA12878-Fosmids-20070510
Submitted DateOct 17, 2007
Publication Cited[1] SSAHA: A Fast Search Method for Large DNA Databases
First entry to dbSNPOct 17 2007 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodNA12878-FOSMIDS
Ascertainment Samplesize3
PopulationN.D.
Allele
Observed AlleleA/G
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency SubmissionN.D.
Genotype Summarypopulation count: 12
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
sequence position quality88731674 -66 5985481615 -137 59

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss78643137|allelePos=501|len=701|taxid=9606|alleles='A/G'|mol=Genomic
 CACACACCTA CAACCATCCA ATCTTTGACA AGGCCAGCAA AAGCAGCAGT GGAAAAAGAC
 CATACTATTC AATATATGGT GTTGGAATAA CTGGCTAGCC ACATACAGAA GACTGAAGCC
 AGACCCCTAC CTTTCACCAT ATACAAAAAT TAACTCAAAA TATATTAAAG ATTTCAATGT
 AAGACCTCAA ACTGTAAGAT CCTGGAAGAT AACCTAGGAA ATACTCTTCT TGACGTTGGC
 CTTGGCAAAG AATTTTTGGC TAAGTTCCCA AAAACGATTG CAACAAAACA AAATTGGCAA
 GTAGAATTTA ACTAAATGAA AGAGCTTCTG CACAGCAAGA GAAACGTTTG ACAGAGAATA
 CAGACAACCT ACTGAATGAG AGAAACTATT TGCAAACTAT GCATCTGACA AAGGCCTAAT
 ATCCAGAATC TACAGGGAAC TTATGCAAAA AACGTTCACT TTCTGTCTGT GTTCACGTCA
 CCAAGAGAAT AGAAAGGAAA
 R
 GGGAAGAATG CAAAAGTCAA AGACACGTCA CCCTCCTTGA GACAGCCCTC CAGTCCAGGC
 CAAATCTCAG CCTGCCCTTG GTCCGCTGTG GTTGGGCCTG CACCCAAGCC ATGAGCACAC
 GCAGCAATTG TGGCAGCAGA AGCTTCCTCT GGGCTCAGAC TCAGGCTGAT GCTGCGTCAG
 GACCTGCCGC GGTCTCGGCT

  Submitted Frequency for ss78643137 back to top
There is no frequency submission for ss78643137.


  dbSNP summary of Genotypes for ss78643137 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
HapMap-CEU226226G=0.83185840
A=0.16814159G/G=0.68141592
A/G=0.30088496
A/A=0.01769911
Pr(chiSq=0.646,df=1)
=0.439
Genotype
Freq.
HapMap-HCB
EAST ASIA
8686G=0.73255813
A=0.26744187A/G=0.48837209
G/G=0.48837209
A/A=0.02325581
Pr(chiSq=2.610,df=1)
=0.150
Genotype
Freq.
HapMap-JPT172172G=0.75000000
A=0.25000000G/G=0.54651165
A/G=0.40697673
A/A=0.04651163
Pr(chiSq=0.625,df=1)
=0.439
Genotype
Freq.
HapMap-YRI226226A=0.78318584
G=0.21681416A/A=0.61061949
A/G=0.34513274
G/G=0.04424779
Pr(chiSq=0.030,df=1)
=1.000
Genotype
Freq.
HAPMAP-ASW9898A=0.59183675
G=0.40816328A/G=0.53061223
A/A=0.32653061
G/G=0.14285715
Pr(chiSq=0.473,df=1)
=0.527
Genotype
Freq.
HAPMAP-CHB8282G=0.84146339
A=0.15853658G/G=0.68292683
A/G=0.31707317
Pr(chiSq=0.425,df=1)
=0.527
Genotype
Freq.
HAPMAP-CHD170170G=0.82941175
A=0.17058824G/G=0.69411767
A/G=0.27058825
A/A=0.03529412
Pr(chiSq=0.163,df=1)
=0.752
Genotype
Freq.
HAPMAP-GIH176176G=0.76704544
A=0.23295455G/G=0.55681819
A/G=0.42045453
A/A=0.02272727
Pr(chiSq=2.742,df=1)
=0.100
Genotype
Freq.
HAPMAP-LWK180180A=0.64999998
G=0.34999999A/G=0.45555556
A/A=0.42222223
G/G=0.12222222
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.
HAPMAP-MEX100100G=0.75999999
A=0.23999999G/G=0.57999998
A/G=0.36000001
A/A=0.06000000
Pr(chiSq=0.009,df=1)
=1.000
Genotype
Freq.
HAPMAP-MKK286286A=0.61538464
G=0.38461539A/G=0.55944055
A/A=0.33566433
G/G=0.10489511
Pr(chiSq=4.727,df=1)
=0.050
Genotype
Freq.
HAPMAP-TSI176176G=0.85795456
A=0.14204545G/G=0.73863637
A/G=0.23863636
A/A=0.02272727
Pr(chiSq=0.039,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss78643137 back to top
There is no individual genotype data for ss78643137.

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