A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328809



Internal ID14829087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132320635..132320635hg38UCSC Ensembl
Innerchr12:132320634..132320636hg38UCSC Ensembl
Outerchr12:132320585..132320685hg38UCSC Ensembl
chr12:132897221..132897221hg19UCSC Ensembl
Innerchr12:132897220..132897222hg19UCSC Ensembl
Outerchr12:132897171..132897271hg19UCSC Ensembl
chr12:131407294..131407294hg18UCSC Ensembl
Innerchr12:131407295..131407293hg18UCSC Ensembl
Outerchr12:131407244..131407344hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701281
SamplesNA12878
Known GenesGALNT9
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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