A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653475



Internal ID13735875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84643480..84643480hg38UCSC Ensembl
Innerchr6:84643479..84643481hg38UCSC Ensembl
Outerchr6:84643430..84643530hg38UCSC Ensembl
chr6:85353198..85353198hg19UCSC Ensembl
Innerchr6:85353197..85353199hg19UCSC Ensembl
Outerchr6:85353148..85353248hg19UCSC Ensembl
chr6:85409917..85409917hg18UCSC Ensembl
Innerchr6:85409918..85409916hg18UCSC Ensembl
Outerchr6:85409867..85409967hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg381344
hg191344
hg181344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3341177
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653475
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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