A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672372



Internal ID13670220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46254296..46254340hg38UCSC Ensembl
Innerchr12:46254314..46254319hg38UCSC Ensembl
Outerchr12:46254278..46254358hg38UCSC Ensembl
chr12:46648079..46648123hg19UCSC Ensembl
Innerchr12:46648097..46648102hg19UCSC Ensembl
Outerchr12:46648061..46648141hg19UCSC Ensembl
chr12:44934346..44934390hg18UCSC Ensembl
Innerchr12:44934364..44934369hg18UCSC Ensembl
Outerchr12:44934328..44934408hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324068
Supporting Variants
SamplesNA12878
Known GenesSLC38A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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