A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678339



Internal ID14757561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291669..160291688hg38UCSC Ensembl
Innerchr1:160291665..160291692hg38UCSC Ensembl
Outerchr1:160291646..160291711hg38UCSC Ensembl
chr1:160261459..160261478hg19UCSC Ensembl
Innerchr1:160261455..160261482hg19UCSC Ensembl
Outerchr1:160261436..160261501hg19UCSC Ensembl
chr1:158528083..158528102hg18UCSC Ensembl
Innerchr1:158528106..158528079hg18UCSC Ensembl
Outerchr1:158528060..158528125hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334227
Supporting Variants
SamplesNA19240
Known GenesCOPA
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678339
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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