A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445504



Internal ID14945770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974577..98974609hg38UCSC Ensembl
Innerchr12:98974581..98974602hg38UCSC Ensembl
Outerchr12:98974552..98974634hg38UCSC Ensembl
chr12:99368355..99368387hg19UCSC Ensembl
Innerchr12:99368359..99368380hg19UCSC Ensembl
Outerchr12:99368330..99368412hg19UCSC Ensembl
chr12:97892486..97892518hg18UCSC Ensembl
Innerchr12:97892511..97892490hg18UCSC Ensembl
Outerchr12:97892461..97892543hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959050, essv8959047, essv8959049
SamplesNA07037, NA07357, NA07346
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445504
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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