A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629329



Internal ID7016151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42530243..42542013hg38UCSC Ensembl
Innerchr12:42530743..42541513hg38UCSC Ensembl
Outerchr12:42529243..42543013hg38UCSC Ensembl
chr12:42924045..42935815hg19UCSC Ensembl
Innerchr12:42924545..42935315hg19UCSC Ensembl
Outerchr12:42923045..42936815hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811771
hg1911771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14459570, essv14459562, essv14459567, essv14459572, essv14459569, essv14459568, essv14459565, essv14459563, essv14459566, essv14459564, essv14459571
SamplesHG03773, HG03603, HG03718, HG03660, HG03974, HG04017, HG03991, HG04026, HG04090, NA21094, HG04141
Known GenesPRICKLE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629329
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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