A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424290



Internal ID14924561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18253116..18253160hg38UCSC Ensembl
Innerchr6:18253109..18253164hg38UCSC Ensembl
Outerchr6:18253065..18253208hg38UCSC Ensembl
chr6:18253347..18253391hg19UCSC Ensembl
Innerchr6:18253340..18253395hg19UCSC Ensembl
Outerchr6:18253296..18253439hg19UCSC Ensembl
chr6:18361326..18361370hg18UCSC Ensembl
Innerchr6:18361374..18361319hg18UCSC Ensembl
Outerchr6:18361275..18361418hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928076, essv8928084, essv8928073, essv8928079, essv8928078, essv8928081, essv8928074, essv8928075, essv8928077, essv8928072, essv8928082, essv8928083
SamplesNA11881, NA07347, NA18523, NA18952, NA18948, NA19108, NA18965, NA18505, NA11894, NA18973, NA18916, NA19129
Known GenesDEK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424290
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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