A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9845314



Internal ID5464457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5678909..5686890hg38UCSC Ensembl
Innerchr1:5678915..5686884hg38UCSC Ensembl
Outerchr1:5678903..5686896hg38UCSC Ensembl
chr1:5738969..5746950hg19UCSC Ensembl
Innerchr1:5738975..5746944hg19UCSC Ensembl
Outerchr1:5738963..5746956hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg387982
hg197982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585098
Supporting Variants
SamplesNA18971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9845314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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