A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11049232



Internal ID3864689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78293509..78294026hg38UCSC Ensembl
Innerchr3:78293511..78294025hg38UCSC Ensembl
Outerchr3:78293508..78294028hg38UCSC Ensembl
chr3:78342659..78343176hg19UCSC Ensembl
Innerchr3:78342661..78343175hg19UCSC Ensembl
Outerchr3:78342658..78343178hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596681
Supporting Variants
SamplesHG03499
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11049232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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