A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11219131



Internal ID4690618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168472521..168477588hg38UCSC Ensembl
Innerchr3:168472521..168477588hg38UCSC Ensembl
Outerchr3:168472288..168477745hg38UCSC Ensembl
chr3:168190309..168195376hg19UCSC Ensembl
Innerchr3:168190309..168195376hg19UCSC Ensembl
Outerchr3:168190076..168195533hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg385068
hg195068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598576
Supporting Variants
SamplesHG04212
Known GenesEGFEM1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11219131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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