A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7829962



Internal ID14565878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41037035..41037036hg38UCSC Ensembl
Innerchr1:41037014..41037057hg38UCSC Ensembl
Outerchr1:41037013..41037058hg38UCSC Ensembl
chr1:41502707..41502708hg19UCSC Ensembl
Innerchr1:41502686..41502729hg19UCSC Ensembl
Outerchr1:41502685..41502730hg19UCSC Ensembl
chr1:41275294..41275295hg18UCSC Ensembl
Innerchr1:41275316..41275273hg18UCSC Ensembl
Outerchr1:41275272..41275317hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385987
hg195987
hg185987
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304788
Supporting Variants
SamplesNA19143
Known GenesSCMH1, SLFNL1-AS1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7829962
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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