A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628574



Internal ID7015398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11339399..11418061hg38UCSC Ensembl
Innerchr12:11339408..11418053hg38UCSC Ensembl
Outerchr12:11339391..11418070hg38UCSC Ensembl
chr12:11492333..11570995hg19UCSC Ensembl
Innerchr12:11492342..11570987hg19UCSC Ensembl
Outerchr12:11492325..11571004hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3878663
hg1978663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14382241, essv14382235, essv14382238, essv14382240, essv14382239, essv14382242, essv14382236, essv14382243, essv14382237, essv14382234
SamplesNA18502, HG03096, HG03052, NA18881, NA18916, HG02854, HG00551, HG02010, NA20520, HG02095
Known GenesPRB1, PRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628574
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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