A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8959049



Internal ID12734129
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 StatusS
Merged Variantsesv3445504
Supporting Variants
SamplesNA07357
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8959049
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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