A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306085



Internal ID14806347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59706880..59706881hg38UCSC Ensembl
Innerchr12:59706819..59706942hg38UCSC Ensembl
Outerchr12:59706818..59706943hg38UCSC Ensembl
chr12:60100661..60100662hg19UCSC Ensembl
Innerchr12:60100600..60100723hg19UCSC Ensembl
Outerchr12:60100599..60100724hg19UCSC Ensembl
chr12:58386928..58386929hg18UCSC Ensembl
Innerchr12:58386990..58386867hg18UCSC Ensembl
Outerchr12:58386866..58386991hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756168
SamplesNA18870
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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