A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12013788



Internal ID5327665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107159116..107168988hg38UCSC Ensembl
Innerchr5:107159116..107168988hg38UCSC Ensembl
Outerchr5:107158901..107169152hg38UCSC Ensembl
chr5:106494817..106504689hg19UCSC Ensembl
Innerchr5:106494817..106504689hg19UCSC Ensembl
Outerchr5:106494602..106504853hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg389873
hg199873
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606189
Supporting Variants
SamplesNA18870
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12013788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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