A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10939100



Internal ID1586513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16953702..16977637hg38UCSC Ensembl
Innerchr3:16954202..16977137hg38UCSC Ensembl
Outerchr3:16952702..16978637hg38UCSC Ensembl
chr3:16995194..17019129hg19UCSC Ensembl
Innerchr3:16995694..17018629hg19UCSC Ensembl
Outerchr3:16994194..17020129hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3823936
hg1923936
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595410
Supporting Variants
SamplesHG01465
Known GenesPLCL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10939100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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