A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362853



Internal ID14863114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028445..7028503hg38UCSC Ensembl
Innerchr17:7028461..7028487hg38UCSC Ensembl
Outerchr17:7028429..7028519hg38UCSC Ensembl
chr17:6931764..6931822hg19UCSC Ensembl
Innerchr17:6931780..6931806hg19UCSC Ensembl
Outerchr17:6931748..6931838hg19UCSC Ensembl
chr17:6872488..6872546hg18UCSC Ensembl
Innerchr17:6872504..6872530hg18UCSC Ensembl
Outerchr17:6872472..6872562hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670780, essv8670779
SamplesNA12892, NA12878
Known GenesBCL6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362853
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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