A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586009



Internal ID6973528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50303767..50305853hg38UCSC Ensembl
Innerchr1:50303767..50305853hg38UCSC Ensembl
Outerchr1:50303638..50305928hg38UCSC Ensembl
chr1:50769439..50771525hg19UCSC Ensembl
Innerchr1:50769439..50771525hg19UCSC Ensembl
Outerchr1:50769310..50771600hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382087
hg192087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9928516, essv9928517
SamplesNA19055, NA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586009
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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