A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603797



Internal ID6644051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1086744..1259707hg38UCSC Ensembl
Innerchr5:1086894..1259557hg38UCSC Ensembl
Outerchr5:1086594..1259857hg38UCSC Ensembl
chr5:1086859..1259822hg19UCSC Ensembl
Innerchr5:1087009..1259672hg19UCSC Ensembl
Outerchr5:1086709..1259972hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38172964
hg19172964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11776524
SamplesHG00139
Known GenesSLC12A7, SLC6A18, SLC6A19, TERT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603797
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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