A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10938666



Internal ID940482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16280652..16283312hg38UCSC Ensembl
Innerchr3:16280674..16283291hg38UCSC Ensembl
Outerchr3:16280631..16283334hg38UCSC Ensembl
chr3:16322159..16324819hg19UCSC Ensembl
Innerchr3:16322181..16324798hg19UCSC Ensembl
Outerchr3:16322138..16324841hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg382661
hg192661
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595402
Supporting Variants
SamplesHG03731
Known GenesOXNAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10938666
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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