A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653582



Internal ID15065745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61440524..61440524hg38UCSC Ensembl
Innerchr8:61440523..61440525hg38UCSC Ensembl
Outerchr8:61440474..61440574hg38UCSC Ensembl
chr8:62353083..62353083hg19UCSC Ensembl
Innerchr8:62353082..62353084hg19UCSC Ensembl
Outerchr8:62353033..62353133hg19UCSC Ensembl
chr8:62515637..62515637hg18UCSC Ensembl
Innerchr8:62515638..62515636hg18UCSC Ensembl
Outerchr8:62515587..62515687hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3414209
Supporting Variants
SamplesNA19239
Known GenesCLVS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653582
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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