A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599410



Internal ID6986458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2618503..2623248hg38UCSC Ensembl
Innerchr4:2618527..2623224hg38UCSC Ensembl
Outerchr4:2618479..2623272hg38UCSC Ensembl
chr4:2620230..2624975hg19UCSC Ensembl
Innerchr4:2620254..2624951hg19UCSC Ensembl
Outerchr4:2620206..2624999hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384746
hg194746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317183
SamplesHG04177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599410
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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