A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1455e1



Internal ID6309253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46680452..46972489hg19UCSC Ensembl
chr3:46655456..46947493hg18UCSC Ensembl
chr3:46655456..46947493hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv12990, essv14602, esv136, essv11254, essv9900, essv14169, essv15047, essv8085, essv12625, essv12397, essv16961, essv8775, essv13102, essv9416, essv10371, essv10530, essv16101, essv13419, essv12518, essv15889, essv17902, essv10081, essv12565, essv14276, essv10121, essv9184, essv12227, essv16343, essv15271, essv16854
SamplesNA19207, NA19194, NA19192, NA19222, NA19093, NA18500, NA18859, NA19223, NA19144, NA19208, NA19140, NA19100, NA19129, NA19094, NA19206, NA19238, NA19098, NA19145, NA19101, NA19193, NA19128, NA19099, NA12003, NA19205, NA18852, NA19130, NA19240, NA19204, NA19092
Known GenesALS2CL, CCDC12, MYL3, PRSS42, PRSS45, PRSS46, PRSS50, PTH1R, TMIE
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv1455e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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