A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12028708



Internal ID2260016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115509410..115510781hg38UCSC Ensembl
Innerchr5:115509410..115510781hg38UCSC Ensembl
Outerchr5:115509305..115510871hg38UCSC Ensembl
chr5:114845107..114846478hg19UCSC Ensembl
Innerchr5:114845107..114846478hg19UCSC Ensembl
Outerchr5:114845002..114846568hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg381372
hg191372
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606369
Supporting Variants
SamplesHG02020
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12028708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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