A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741213



Internal ID13642381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54863508..54863599hg38UCSC Ensembl
Innerchr6:54863549..54863558hg38UCSC Ensembl
Outerchr6:54863458..54863649hg38UCSC Ensembl
chr6:54728306..54728397hg19UCSC Ensembl
Innerchr6:54728347..54728356hg19UCSC Ensembl
Outerchr6:54728256..54728447hg19UCSC Ensembl
chr6:54836265..54836356hg18UCSC Ensembl
Innerchr6:54836315..54836306hg18UCSC Ensembl
Outerchr6:54836215..54836406hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3346577
Supporting Variants
SamplesNA12878
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741213
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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