A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11186213



Internal ID6672886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151982641..151984866hg38UCSC Ensembl
Innerchr3:151982641..151984866hg38UCSC Ensembl
Outerchr3:151982535..151984934hg38UCSC Ensembl
chr3:151700430..151702655hg19UCSC Ensembl
Innerchr3:151700430..151702655hg19UCSC Ensembl
Outerchr3:151700324..151702723hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382226
hg192226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598193
Supporting Variants
SamplesNA20810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11186213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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