A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586180



Internal ID6626493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59319533..59367279hg38UCSC Ensembl
Innerchr1:59319567..59367245hg38UCSC Ensembl
Outerchr1:59319499..59367313hg38UCSC Ensembl
chr1:59785205..59832951hg19UCSC Ensembl
Innerchr1:59785239..59832917hg19UCSC Ensembl
Outerchr1:59785171..59832985hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3847747
hg1947747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9942943
SamplesHG01284
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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