A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11244544



Internal ID1246360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179670731..179672555hg38UCSC Ensembl
Innerchr3:179670772..179672514hg38UCSC Ensembl
Outerchr3:179670690..179672596hg38UCSC Ensembl
chr3:179388519..179390343hg19UCSC Ensembl
Innerchr3:179388560..179390302hg19UCSC Ensembl
Outerchr3:179388478..179390384hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381825
hg191825
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598847
Supporting Variants
SamplesHG03006
Known GenesUSP13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11244544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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