A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307071



Internal ID14807333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22834678..22834679hg38UCSC Ensembl
Innerchr16:22834660..22834697hg38UCSC Ensembl
Outerchr16:22834659..22834698hg38UCSC Ensembl
chr16:22845999..22846000hg19UCSC Ensembl
Innerchr16:22845981..22846018hg19UCSC Ensembl
Outerchr16:22845980..22846019hg19UCSC Ensembl
chr16:22753500..22753501hg18UCSC Ensembl
Innerchr16:22753519..22753482hg18UCSC Ensembl
Outerchr16:22753481..22753520hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7813595, essv7776411, essv7790894, essv7798632, essv7816044, essv7821430, essv7835631, essv7833897, essv7773344, essv7783460, essv7812974, essv7828493, essv7772772, essv7787335, essv7785586, essv7829342, essv7783134, essv7782397, essv7817781, essv7775656, essv7801615, essv7786607, essv7809925, essv7785796, essv7812219, essv7792437, essv7812580, essv7784823, essv7804372
SamplesNA07347, NA12750, NA18561, NA18501, NA18526, NA18511, NA18573, NA07051, NA18912, NA11840, NA18576, NA18960, NA07357, NA12873, NA12814, NA12761, NA18959, NA18609, NA19190, NA12872, NA18961, NA10851, NA12812, NA18944, NA18499, NA18571, NA12874, NA18555, NA07000
Known GenesHS3ST2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307071
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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