A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670779



Internal ID13384120
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 StatusS
Merged Variantsesv3362853
Supporting Variants
SamplesNA12892
Known GenesBCL6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670779
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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