A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585069



Internal ID6972593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4358568..4370047hg38UCSC Ensembl
Innerchr1:4359068..4369547hg38UCSC Ensembl
Outerchr1:4357568..4371047hg38UCSC Ensembl
chr1:4418628..4430107hg19UCSC Ensembl
Innerchr1:4419128..4429607hg19UCSC Ensembl
Outerchr1:4417628..4431107hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3811480
hg1911480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9844985
SamplesHG00384
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585069
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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