A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605563



Internal ID6972493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80238295..80255108hg38UCSC Ensembl
Innerchr5:80238295..80255108hg38UCSC Ensembl
Outerchr5:80237795..80255608hg38UCSC Ensembl
chr5:79534114..79550927hg19UCSC Ensembl
Innerchr5:79534114..79550927hg19UCSC Ensembl
Outerchr5:79533614..79551427hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3816814
hg1916814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955653
SamplesHG03372
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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