A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678340



Internal ID13663783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162895349..162895368hg38UCSC Ensembl
Innerchr1:162895345..162895372hg38UCSC Ensembl
Outerchr1:162895326..162895391hg38UCSC Ensembl
chr1:162865139..162865158hg19UCSC Ensembl
Innerchr1:162865135..162865162hg19UCSC Ensembl
Outerchr1:162865116..162865181hg19UCSC Ensembl
chr1:161131763..161131782hg18UCSC Ensembl
Innerchr1:161131786..161131759hg18UCSC Ensembl
Outerchr1:161131740..161131805hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369026
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678340
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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