A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604304



Internal ID6991334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21152583..21183049hg38UCSC Ensembl
Innerchr5:21152583..21183049hg38UCSC Ensembl
Outerchr5:21152083..21183549hg38UCSC Ensembl
chr5:21152692..21183158hg19UCSC Ensembl
Innerchr5:21152692..21183158hg19UCSC Ensembl
Outerchr5:21152192..21183658hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3830467
hg1930467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11831434, essv11831435
SamplesHG02164, HG01269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604304
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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