A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679213



Internal ID15108855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99317530..99317549hg38UCSC Ensembl
Innerchr6:99317526..99317553hg38UCSC Ensembl
Outerchr6:99317507..99317572hg38UCSC Ensembl
chr6:99765406..99765425hg19UCSC Ensembl
Innerchr6:99765402..99765429hg19UCSC Ensembl
Outerchr6:99765383..99765448hg19UCSC Ensembl
chr6:99872127..99872146hg18UCSC Ensembl
Innerchr6:99872150..99872123hg18UCSC Ensembl
Outerchr6:99872104..99872169hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449999
Supporting Variants
SamplesNA19240
Known GenesFAXC
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679213
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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