A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678343



Internal ID15104221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164514571..164514590hg38UCSC Ensembl
Innerchr1:164514567..164514594hg38UCSC Ensembl
Outerchr1:164514548..164514613hg38UCSC Ensembl
chr1:164483808..164483827hg19UCSC Ensembl
Innerchr1:164483804..164483831hg19UCSC Ensembl
Outerchr1:164483785..164483850hg19UCSC Ensembl
chr1:162750432..162750451hg18UCSC Ensembl
Innerchr1:162750455..162750428hg18UCSC Ensembl
Outerchr1:162750409..162750474hg18UCSC 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 Variantsesv3406031
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678343
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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