A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9594835



Internal ID13188772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74682351..74682370hg38UCSC Ensembl
Innerchr1:74682347..74682374hg38UCSC Ensembl
Outerchr1:74682328..74682393hg38UCSC Ensembl
chr1:75148035..75148054hg19UCSC Ensembl
Innerchr1:75148031..75148058hg19UCSC Ensembl
Outerchr1:75148012..75148077hg19UCSC Ensembl
chr1:74920623..74920642hg18UCSC Ensembl
Innerchr1:74920646..74920619hg18UCSC Ensembl
Outerchr1:74920600..74920665hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3398349
Supporting Variants
SamplesNA11894
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9594835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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