A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9860479



Internal ID5881441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13836597..13840507hg38UCSC Ensembl
Innerchr1:13836598..13840506hg38UCSC Ensembl
Outerchr1:13836596..13840508hg38UCSC Ensembl
chr1:14163092..14167002hg19UCSC Ensembl
Innerchr1:14163093..14167001hg19UCSC Ensembl
Outerchr1:14163091..14167003hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585266
Supporting Variants
SamplesNA19308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9860479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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