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estd48 (Stefansson et al. 2005)

Organism:
Human
Study Type:
Control Set
Submitter:
Augustine Kong
Description:
A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. See Variant Summary counts for estd48 in dbVar Variant Summary.
Publication(s):
Stefansson et al. 2005

Detailed Information: Download 1 Variant Region, Download 1 Variant Call, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI34 (hg16)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000017.11Chr1711RemappedNC_000017.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000017.10Chr1711RemappedNC_000017.10
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000017.8Chr1711SubmittedNC_000017.8

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000017.8Chr17100100100100
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000017.8Chr17101000101000

Samplesets

Number of Samplesets: 1

Name:
RP11
Description:
Single sample BAC Library
Size:
1
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
    • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexSubject Phenotype
    RP11_BAC_ClonesLibraryRP11_BAC_ClonesMaleNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoveryMicrosatellite genotypingBAC assemblyPTC-225 (MJ Research)1

    Validations

    No validation data were submitted for this study.

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