A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601997



Internal ID6989032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120601902..120624180hg38UCSC Ensembl
Innerchr4:120601903..120624179hg38UCSC Ensembl
Outerchr4:120601901..120624181hg38UCSC Ensembl
chr4:121523057..121545335hg19UCSC Ensembl
Innerchr4:121523058..121545334hg19UCSC Ensembl
Outerchr4:121523056..121545336hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3822279
hg1922279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11588135, essv11588130, essv11588131, essv11588132, essv11588136, essv11588137, essv11588133, essv11588134
SamplesNA19701, HG03193, NA19119, HG02946, NA18516, HG03064, HG03461, NA19096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601997
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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