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estd50 (Giglio et al. 2002)

Organism:
Human
Study Type:
Case-Control
Submitter:
Orsetta Zuffardi
Description:
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. See Variant Summary counts for estd50 in dbVar Variant Summary.
Publication(s):
Giglio et al. 2002

Detailed Information: Download 2 Variant Regions, Download 4 Variant Calls, 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_000004.12Chr412RemappedNC_000004.12
NC_000008.11Chr812RemappedNC_000008.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000004.11Chr412RemappedNC_000004.11
NC_000008.10Chr812RemappedNC_000008.10
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000004.8Chr412SubmittedNC_000004.8
NC_000008.8Chr812SubmittedNC_000008.8

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000004.8Chr4101000202000
NC_000008.8Chr8101000202000
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000004.8Chr4101000202000
NC_000008.8Chr8101000202000

Samplesets

Number of Samplesets: 2

Sampleset ID:
1
Sampleset Type:
Case
Description:
Six case subjects affected by Wolf-Hirschhorn syndrome plus the non-WHS father of one individual.
Size:
7
Organisms:
Homo sapiens
Sampleset Phenotype(s):
WOLF-HIRSCHHORN SYNDROME; WHS
  • Download Samples as CSV file
    • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexEthnicitySubject Phenotype
    1Whole blood1CaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    2Whole blood2CaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    3Whole blood3CaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    4Whole blood4CaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    5Whole blood5CaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    6Whole blood6CaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    7Whole blood7MaleCaucasianWOLF-HIRSCHHORN SYNDROME; WHS
    Sampleset ID:
    2
    Sampleset Type:
    Control
    Description:
    A control population composed of 40 healthy individuals.
    Size:
    40 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoveryFISHProbe signal intensityGenome-SystemInc4

    Validations

    No validation data were submitted for this study.

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