A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185943



Internal ID5276873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151701056..151713833hg38UCSC Ensembl
Innerchr3:151701056..151713833hg38UCSC Ensembl
Outerchr3:151700556..151714333hg38UCSC Ensembl
chr3:151418844..151431621hg19UCSC Ensembl
Innerchr3:151418844..151431621hg19UCSC Ensembl
Outerchr3:151418344..151432121hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3812778
hg1912778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598185
Supporting Variants
SamplesNA18644
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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