A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11814843



Internal ID3031131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12159935..12211747hg38UCSC Ensembl
Innerchr5:12159935..12211747hg38UCSC Ensembl
Outerchr5:12159435..12212247hg38UCSC Ensembl
chr5:12160047..12211859hg19UCSC Ensembl
Innerchr5:12160047..12211859hg19UCSC Ensembl
Outerchr5:12159547..12212359hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3851813
hg1951813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604031
Supporting Variants
SamplesHG02667
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11814843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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