A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603827



Internal ID6990858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2039311..2066127hg38UCSC Ensembl
Innerchr5:2039321..2066118hg38UCSC Ensembl
Outerchr5:2039302..2066137hg38UCSC Ensembl
chr5:2039425..2066241hg19UCSC Ensembl
Innerchr5:2039435..2066232hg19UCSC Ensembl
Outerchr5:2039416..2066251hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3826817
hg1926817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11788217, essv11788216
SamplesHG00240, NA20585
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603827
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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