A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11219124



Internal ID935568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168253499..168255406hg38UCSC Ensembl
Innerchr3:168253526..168255379hg38UCSC Ensembl
Outerchr3:168253472..168255433hg38UCSC Ensembl
chr3:167971287..167973194hg19UCSC Ensembl
Innerchr3:167971314..167973167hg19UCSC Ensembl
Outerchr3:167971260..167973221hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598573
Supporting Variants
SamplesHG00559
Known GenesEGFEM1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11219124
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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