A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399726



Internal ID14900003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79916013..79916032hg38UCSC Ensembl
Innerchr12:79916009..79916036hg38UCSC Ensembl
Outerchr12:79915990..79916055hg38UCSC Ensembl
chr12:80309793..80309812hg19UCSC Ensembl
Innerchr12:80309789..80309816hg19UCSC Ensembl
Outerchr12:80309770..80309835hg19UCSC Ensembl
chr12:78833924..78833943hg18UCSC Ensembl
Innerchr12:78833947..78833920hg18UCSC Ensembl
Outerchr12:78833901..78833966hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9658569
SamplesNA11881
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399726
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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