A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13952692



Internal ID5493700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120986454..120987839hg38UCSC Ensembl
Innerchr10:120986454..120987839hg38UCSC Ensembl
Outerchr10:120986332..120987999hg38UCSC Ensembl
chr10:122745967..122747352hg19UCSC Ensembl
Innerchr10:122745967..122747352hg19UCSC Ensembl
Outerchr10:122745845..122747512hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624744
Supporting Variants
SamplesNA18982
Known GenesMIR5694
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13952692
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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