A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303292



Internal ID14803554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974576..98974577hg38UCSC Ensembl
Innerchr12:98974557..98974596hg38UCSC Ensembl
Outerchr12:98974556..98974597hg38UCSC Ensembl
chr12:99368354..99368355hg19UCSC Ensembl
Innerchr12:99368335..99368374hg19UCSC Ensembl
Outerchr12:99368334..99368375hg19UCSC Ensembl
chr12:97892485..97892486hg18UCSC Ensembl
Innerchr12:97892505..97892466hg18UCSC Ensembl
Outerchr12:97892465..97892506hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7809397, essv7776093, essv7802945
SamplesNA07037, NA07357, NA07346
Known GenesANKS1B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303292
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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