A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446144



Internal ID14946408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59706878..59706926hg38UCSC Ensembl
Innerchr12:59706885..59706917hg38UCSC Ensembl
Outerchr12:59706837..59706967hg38UCSC Ensembl
chr12:60100659..60100707hg19UCSC Ensembl
Innerchr12:60100666..60100698hg19UCSC Ensembl
Outerchr12:60100618..60100748hg19UCSC Ensembl
chr12:58386926..58386974hg18UCSC Ensembl
Innerchr12:58386965..58386933hg18UCSC Ensembl
Outerchr12:58386885..58387015hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8957661
SamplesNA18870
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446144
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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