A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12150879



Internal ID2152695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179915029..179917317hg38UCSC Ensembl
Innerchr5:179915029..179917317hg38UCSC Ensembl
Outerchr5:179914743..179917633hg38UCSC Ensembl
chr5:179342029..179344317hg19UCSC Ensembl
Innerchr5:179342029..179344317hg19UCSC Ensembl
Outerchr5:179341743..179344633hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382289
hg192289
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607756
Supporting Variants
SamplesHG01198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12150879
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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