A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306321



Internal ID15153269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85238009..85238010hg38UCSC Ensembl
Innerchr6:85237983..85238036hg38UCSC Ensembl
Outerchr6:85237982..85238037hg38UCSC Ensembl
chr6:85947727..85947728hg19UCSC Ensembl
Innerchr6:85947701..85947754hg19UCSC Ensembl
Outerchr6:85947700..85947755hg19UCSC Ensembl
chr6:86004446..86004447hg18UCSC Ensembl
Innerchr6:86004473..86004420hg18UCSC Ensembl
Outerchr6:86004419..86004474hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg382207
hg192207
hg182207
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754245, essv7751905, essv7743568, essv7745163, essv7748711, essv7757355, essv7757636, essv7752082, essv7762423, essv7751665, essv7752338, essv7759410, essv7762495, essv7745735, essv7748655, essv7761947, essv7761231, essv7755265, essv7756763, essv7749046, essv7748030, essv7757029, essv7757982, essv7741850
SamplesNA18947, NA18980, NA18545, NA18940, NA18960, NA18582, NA18949, NA18973, NA18956, NA18579, NA18572, NA18537, NA18566, NA18532, NA18593, NA18945, NA18576, NA18542, NA18961, NA18952, NA18564, NA18943, NA18562, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306321
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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