A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398103



Internal ID14898380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99528434..99528443hg38UCSC Ensembl
Innerchr12:99528436..99528441hg38UCSC Ensembl
Outerchr12:99528432..99528445hg38UCSC Ensembl
chr12:99922212..99922221hg19UCSC Ensembl
Innerchr12:99922214..99922219hg19UCSC Ensembl
Outerchr12:99922210..99922223hg19UCSC Ensembl
chr12:98446343..98446352hg18UCSC Ensembl
Innerchr12:98446345..98446350hg18UCSC Ensembl
Outerchr12:98446341..98446354hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865616
SamplesNA12005
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398103
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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