A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603853



Internal ID6990884
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11791137, essv11791138
SamplesNA12044, HG00344
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603853
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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