A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588112



Internal ID6628412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183398202..183402511hg38UCSC Ensembl
Innerchr1:183398208..183402505hg38UCSC Ensembl
Outerchr1:183398196..183402517hg38UCSC Ensembl
chr1:183367337..183371646hg19UCSC Ensembl
Innerchr1:183367343..183371640hg19UCSC Ensembl
Outerchr1:183367331..183371652hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10208548, essv10208547
SamplesNA19060, HG00599
Known GenesNMNAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588112
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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