A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597502



Internal ID6984643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116949747..116965891hg38UCSC Ensembl
Innerchr3:116949798..116965841hg38UCSC Ensembl
Outerchr3:116949697..116965942hg38UCSC Ensembl
chr3:116668594..116684738hg19UCSC Ensembl
Innerchr3:116668645..116684688hg19UCSC Ensembl
Outerchr3:116668544..116684789hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3816145
hg1916145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11112418, essv11112416, essv11112417
SamplesHG00557, HG01619, HG01572
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597502
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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