A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602219



Internal ID6989253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130790932..130841357hg38UCSC Ensembl
Innerchr4:130790932..130841357hg38UCSC Ensembl
Outerchr4:130790432..130841857hg38UCSC Ensembl
chr4:131712087..131762512hg19UCSC Ensembl
Innerchr4:131712087..131762512hg19UCSC Ensembl
Outerchr4:131711587..131763012hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3850426
hg1950426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1025e214
Supporting Variantsessv11603757
SamplesNA12748
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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