A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11791137



Internal ID734474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3346219..3349778hg38UCSC Ensembl
Innerchr5:3346219..3349778hg38UCSC Ensembl
Outerchr5:3346060..3349977hg38UCSC Ensembl
chr5:3346333..3349892hg19UCSC Ensembl
Innerchr5:3346333..3349892hg19UCSC Ensembl
Outerchr5:3346174..3350091hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603853
Supporting Variants
SamplesHG00344
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11791137
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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