A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306780



Internal ID14807042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59725002..59725003hg38UCSC Ensembl
Innerchr12:59724975..59725030hg38UCSC Ensembl
Outerchr12:59724974..59725031hg38UCSC Ensembl
chr12:60118783..60118784hg19UCSC Ensembl
Innerchr12:60118756..60118811hg19UCSC Ensembl
Outerchr12:60118755..60118812hg19UCSC Ensembl
chr12:58405050..58405051hg18UCSC Ensembl
Innerchr12:58405078..58405023hg18UCSC Ensembl
Outerchr12:58405022..58405079hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761818, essv7741331, essv7749183, essv7746132, essv7745447, essv7754140, essv7741088, essv7747921, essv7762253, essv7755027
SamplesNA18871, NA18523, NA18517, NA18489, NA19147, NA18856, NA19238, NA19225, NA19240, NA18853
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306780
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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