A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605498



Internal ID6972428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77748310..77749247hg38UCSC Ensembl
Innerchr5:77748335..77749223hg38UCSC Ensembl
Outerchr5:77748286..77749272hg38UCSC Ensembl
chr5:77044134..77045071hg19UCSC Ensembl
Innerchr5:77044159..77045047hg19UCSC Ensembl
Outerchr5:77044110..77045096hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11949216, essv11949215
SamplesHG03515, HG02981
Known GenesTBCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605498
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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