A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9659469



Internal ID13270378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104922927..104922946hg38UCSC Ensembl
Innerchr12:104922923..104922950hg38UCSC Ensembl
Outerchr12:104922904..104922969hg38UCSC Ensembl
chr12:105316705..105316724hg19UCSC Ensembl
Innerchr12:105316701..105316728hg19UCSC Ensembl
Outerchr12:105316682..105316747hg19UCSC Ensembl
chr12:103840835..103840854hg18UCSC Ensembl
Innerchr12:103840858..103840831hg18UCSC Ensembl
Outerchr12:103840812..103840877hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427923
Supporting Variants
SamplesNA12872
Known GenesSLC41A2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9659469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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