A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305316



Internal ID15152264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97026293..97026294hg38UCSC Ensembl
Innerchr12:97026272..97026315hg38UCSC Ensembl
Outerchr12:97026271..97026316hg38UCSC Ensembl
chr12:97420071..97420072hg19UCSC Ensembl
Innerchr12:97420050..97420093hg19UCSC Ensembl
Outerchr12:97420049..97420094hg19UCSC Ensembl
chr12:95944202..95944203hg18UCSC Ensembl
Innerchr12:95944224..95944181hg18UCSC Ensembl
Outerchr12:95944180..95944225hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7783073, essv7774650, essv7836001, essv7794867, essv7834642
SamplesNA18592, NA18940, NA18970, NA18537, NA18573
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305316
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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