A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600867



Internal ID6987906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68272092..68275441hg38UCSC Ensembl
Innerchr4:68272122..68275412hg38UCSC Ensembl
Outerchr4:68272063..68275471hg38UCSC Ensembl
chr4:69137810..69141159hg19UCSC Ensembl
Innerchr4:69137840..69141130hg19UCSC Ensembl
Outerchr4:69137781..69141189hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11480186
SamplesNA21087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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