A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598576



Internal ID6985712
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11219132, essv11219131, essv11219133
SamplesHG04212, NA20910, NA20884
Known GenesEGFEM1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598576
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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