A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11113122



Internal ID1996686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:118220407..118225620hg38UCSC Ensembl
Innerchr3:118220408..118225619hg38UCSC Ensembl
Outerchr3:118220406..118225621hg38UCSC Ensembl
chr3:117939254..117944467hg19UCSC Ensembl
Innerchr3:117939255..117944466hg19UCSC Ensembl
Outerchr3:117939253..117944468hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg385214
hg195214
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597535
Supporting Variants
SamplesHG01849
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11113122
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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