A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12605653



Internal ID5087389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158745097..158753970hg38UCSC Ensembl
Innerchr6:158745098..158753970hg38UCSC Ensembl
Outerchr6:158745097..158753971hg38UCSC Ensembl
chr6:159166129..159175002hg19UCSC Ensembl
Innerchr6:159166130..159175002hg19UCSC Ensembl
Outerchr6:159166129..159175003hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg388874
hg198874
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611403
Supporting Variants
SamplesNA18547
Known GenesSYTL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12605653
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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