A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605076



Internal ID6992104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53757695..53763738hg38UCSC Ensembl
Innerchr5:53757695..53763738hg38UCSC Ensembl
Outerchr5:53757195..53764238hg38UCSC Ensembl
chr5:53053525..53059568hg19UCSC Ensembl
Innerchr5:53053525..53059568hg19UCSC Ensembl
Outerchr5:53053025..53060068hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386044
hg196044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11903903, essv11903908, essv11903906, essv11903909, essv11903905, essv11903902, essv11903907, essv11903904, essv11903910
SamplesNA18861, HG02870, NA19457, HG02588, HG01048, HG03088, HG02537, NA18865, NA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605076
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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