A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599805



Internal ID6986850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18930034..18994505hg38UCSC Ensembl
Innerchr4:18930534..18994005hg38UCSC Ensembl
Outerchr4:18929034..18995505hg38UCSC Ensembl
chr4:18931657..18996128hg19UCSC Ensembl
Innerchr4:18932157..18995628hg19UCSC Ensembl
Outerchr4:18930657..18997128hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3864472
hg1964472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv991e214
Supporting Variantsessv11363726
SamplesNA20274
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599805
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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