A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605550



Internal ID6972480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80113703..80117997hg38UCSC Ensembl
Innerchr5:80113703..80117997hg38UCSC Ensembl
Outerchr5:80113366..80118258hg38UCSC Ensembl
chr5:79409526..79413820hg19UCSC Ensembl
Innerchr5:79409526..79413820hg19UCSC Ensembl
Outerchr5:79409189..79414081hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384295
hg194295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11953070, essv11953084, essv11953080, essv11953074, essv11953076, essv11953088, essv11953078, essv11953086, essv11953077, essv11953081, essv11953073, essv11953075, essv11953085, essv11953087, essv11953089, essv11953083, essv11953071, essv11953072, essv11953079, essv11953082
SamplesHG03548, NA19350, NA20805, HG03372, HG03135, HG01167, HG03040, NA19038, HG03369, NA18912, NA19095, HG02594, HG03367, NA19749, HG03060, HG03351, HG03410, HG02679, NA19900, NA19121
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605550
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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