A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332583



Internal ID15179570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41037025..41037081hg38UCSC Ensembl
Innerchr1:41037037..41037066hg38UCSC Ensembl
Outerchr1:41036981..41037125hg38UCSC Ensembl
chr1:41502697..41502753hg19UCSC Ensembl
Innerchr1:41502709..41502738hg19UCSC Ensembl
Outerchr1:41502653..41502797hg19UCSC Ensembl
chr1:41275284..41275340hg18UCSC Ensembl
Innerchr1:41275325..41275296hg18UCSC Ensembl
Outerchr1:41275240..41275384hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385987
hg195987
hg185987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8898887, essv8898886
SamplesNA18507, NA19116
Known GenesSCMH1, SLFNL1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332583
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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