A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589408



Internal ID6976736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244507583..244508330hg38UCSC Ensembl
Innerchr1:244507653..244508261hg38UCSC Ensembl
Outerchr1:244507514..244508400hg38UCSC Ensembl
chr1:244670885..244671632hg19UCSC Ensembl
Innerchr1:244670955..244671563hg19UCSC Ensembl
Outerchr1:244670816..244671702hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360063
SamplesNA18558
Known GenesC1orf101
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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