A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604947



Internal ID6991975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45216801..45227246hg38UCSC Ensembl
Innerchr5:45216851..45227196hg38UCSC Ensembl
Outerchr5:45216717..45227330hg38UCSC Ensembl
chr5:45216903..45227348hg19UCSC Ensembl
Innerchr5:45216953..45227298hg19UCSC Ensembl
Outerchr5:45216819..45227432hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3810446
hg1910446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11890998
SamplesHG01923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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