A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341986



Internal ID14842254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99336792..99336811hg38UCSC Ensembl
Innerchr12:99336788..99336815hg38UCSC Ensembl
Outerchr12:99336769..99336834hg38UCSC Ensembl
chr12:99730570..99730589hg19UCSC Ensembl
Innerchr12:99730566..99730593hg19UCSC Ensembl
Outerchr12:99730547..99730612hg19UCSC Ensembl
chr12:98254701..98254720hg18UCSC Ensembl
Innerchr12:98254724..98254697hg18UCSC Ensembl
Outerchr12:98254678..98254743hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659380
SamplesNA11894
Known GenesANKS1B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341986
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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