A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585087



Internal ID6972611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5113749..5119047hg38UCSC Ensembl
Innerchr1:5114249..5118547hg38UCSC Ensembl
Outerchr1:5112749..5120047hg38UCSC Ensembl
chr1:5173809..5179107hg19UCSC Ensembl
Innerchr1:5174309..5178607hg19UCSC Ensembl
Outerchr1:5172809..5180107hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385299
hg195299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845246, essv9845244, essv9845247, essv9845245
SamplesNA18635, NA18989, NA19011, HG00593
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585087
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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