A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9594013



Internal ID14912058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41037040..41037059hg38UCSC Ensembl
Innerchr1:41037036..41037063hg38UCSC Ensembl
Outerchr1:41037017..41037082hg38UCSC Ensembl
chr1:41502712..41502731hg19UCSC Ensembl
Innerchr1:41502708..41502735hg19UCSC Ensembl
Outerchr1:41502689..41502754hg19UCSC Ensembl
chr1:41275299..41275318hg18UCSC Ensembl
Innerchr1:41275322..41275295hg18UCSC Ensembl
Outerchr1:41275276..41275341hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427723
Supporting Variants
SamplesNA19143
Known GenesSCMH1, SLFNL1-AS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9594013
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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