A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11248433



Internal ID4144004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180132497..180145454hg38UCSC Ensembl
Innerchr3:180132497..180145454hg38UCSC Ensembl
Outerchr3:180131997..180145954hg38UCSC Ensembl
chr3:179850285..179863242hg19UCSC Ensembl
Innerchr3:179850285..179863242hg19UCSC Ensembl
Outerchr3:179849785..179863742hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3812958
hg1912958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598860
Supporting Variants
SamplesHG03753
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11248433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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