A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304788



Internal ID14805050
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 StatusM
Merged Variants
Supporting Variantsessv7816360, essv7818342, essv7829962
SamplesNA18507, NA19143, NA19116
Known GenesSCMH1, SLFNL1-AS1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304788
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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