A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7783073



Internal ID14186428
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 StatusS
Merged Variantsesv3305316
Supporting Variants
SamplesNA18573
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7783073
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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