A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604911



Internal ID6991939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43782923..43793591hg38UCSC Ensembl
Innerchr5:43782923..43793591hg38UCSC Ensembl
Outerchr5:43782423..43794091hg38UCSC Ensembl
chr5:43783025..43793693hg19UCSC Ensembl
Innerchr5:43783025..43793693hg19UCSC Ensembl
Outerchr5:43782525..43794193hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3810669
hg1910669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11886773, essv11886781, essv11886775, essv11886772, essv11886780, essv11886778, essv11886774, essv11886777, essv11886779, essv11886776
SamplesNA18647, NA18611, NA18749, HG00690, NA18531, NA18974, HG00473, NA19472, HG01600, NA19080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604911
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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