A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605488



Internal ID6972418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77543208..77548061hg38UCSC Ensembl
chr5:76839033..76843886hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384854
hg194854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11948246, essv11948250, essv11948242, essv11948241, essv11948238, essv11948240, essv11948243, essv11948245, essv11948251, essv11948249, essv11948248, essv11948244, essv11948239, essv11948247
SamplesHG03241, HG03199, NA18489, HG03499, HG03370, HG02545, HG02817, HG03202, HG02445, HG03367, HG03458, HG03304, HG03432, HG02938
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605488
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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