A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440979



Internal ID14941246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99121323..99121359hg38UCSC Ensembl
Innerchr12:99121269..99121413hg38UCSC Ensembl
Outerchr12:99121233..99121449hg38UCSC Ensembl
chr12:99515101..99515137hg19UCSC Ensembl
Innerchr12:99515047..99515191hg19UCSC Ensembl
Outerchr12:99515011..99515227hg19UCSC Ensembl
chr12:98039232..98039268hg18UCSC Ensembl
Innerchr12:98039322..98039178hg18UCSC Ensembl
Outerchr12:98039142..98039358hg18UCSC 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 Variantsessv7865615, essv7865614
SamplesNA18520, NA12005
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440979
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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