A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303227



Internal ID15150175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99550658..99550659hg38UCSC Ensembl
Innerchr6:99550632..99550685hg38UCSC Ensembl
Outerchr6:99550631..99550686hg38UCSC Ensembl
chr6:99998534..99998535hg19UCSC Ensembl
Innerchr6:99998508..99998561hg19UCSC Ensembl
Outerchr6:99998507..99998562hg19UCSC Ensembl
chr6:100105255..100105256hg18UCSC Ensembl
Innerchr6:100105282..100105229hg18UCSC Ensembl
Outerchr6:100105228..100105283hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759789, essv7755162, essv7755333, essv7759180, essv7740637, essv7758256, essv7740950, essv7756224, essv7761396, essv7747704, essv7745453
SamplesNA18508, NA18504, NA18870, NA19172, NA18499, NA19225, NA18523, NA19108, NA19147, NA18517, NA18522
Known GenesCCNC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303227
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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