A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604826



Internal ID6991854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40808678..40820760hg38UCSC Ensembl
Innerchr5:40809178..40820260hg38UCSC Ensembl
Outerchr5:40807678..40821760hg38UCSC Ensembl
chr5:40808780..40820862hg19UCSC Ensembl
Innerchr5:40809280..40820362hg19UCSC Ensembl
Outerchr5:40807780..40821862hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3812083
hg1912083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11879242
SamplesHG02814
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604826
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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