A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11111206



Internal ID2160378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116117205..116164908hg38UCSC Ensembl
Innerchr3:116117205..116164908hg38UCSC Ensembl
Outerchr3:116116705..116165408hg38UCSC Ensembl
chr3:115836052..115883755hg19UCSC Ensembl
Innerchr3:115836052..115883755hg19UCSC Ensembl
Outerchr3:115835552..115884255hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3847704
hg1947704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597484
Supporting Variants
SamplesHG01953
Known GenesLSAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11111206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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