A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808720



Internal ID13644921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21582815..22699357hg38UCSC Ensembl
Innerchr16:21584805..22697777hg38UCSC Ensembl
Outerchr16:21582705..22699477hg38UCSC Ensembl
chr16:21594136..22710678hg19UCSC Ensembl
Innerchr16:21596126..22709098hg19UCSC Ensembl
Outerchr16:21594026..22710798hg19UCSC Ensembl
chr16:21501637..22618179hg18UCSC Ensembl
Innerchr16:21503627..22616599hg18UCSC Ensembl
Outerchr16:21501527..22618299hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381116543
hg191116543
hg181116543
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368991
Supporting Variants
SamplesNA12878
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC100190986, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808720
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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