A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993180



Internal ID2122685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43906672..43911521hg38UCSC Ensembl
Innerchr3:43906672..43911521hg38UCSC Ensembl
Outerchr3:43906172..43912021hg38UCSC Ensembl
chr3:43948164..43953013hg19UCSC Ensembl
Innerchr3:43948164..43953013hg19UCSC Ensembl
Outerchr3:43947664..43953513hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596026
Supporting Variants
SamplesHG01927
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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