A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305956



Internal ID15152904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126187888..126187889hg38UCSC Ensembl
Innerchr6:126187871..126187906hg38UCSC Ensembl
Outerchr6:126187870..126187907hg38UCSC Ensembl
chr6:126509034..126509035hg19UCSC Ensembl
Innerchr6:126509017..126509052hg19UCSC Ensembl
Outerchr6:126509016..126509053hg19UCSC Ensembl
chr6:126550727..126550728hg18UCSC Ensembl
Innerchr6:126550745..126550710hg18UCSC Ensembl
Outerchr6:126550709..126550746hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7824952, essv7777926, essv7807287, essv7784120, essv7798898, essv7791448, essv7825416, essv7805445, essv7829655, essv7795498, essv7782242, essv7786269, essv7816191, essv7778765, essv7823275, essv7812397
SamplesNA18502, NA19141, NA18861, NA18916, NA19172, NA19114, NA18856, NA18853, NA18858, NA19108, NA19147, NA19143, NA18501, NA19116, NA18505, NA18522
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305956
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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