A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586513



Internal ID6974033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77001998..77008846hg38UCSC Ensembl
Innerchr1:77001998..77008846hg38UCSC Ensembl
Outerchr1:77001498..77009346hg38UCSC Ensembl
chr1:77467683..77474531hg19UCSC Ensembl
Innerchr1:77467683..77474531hg19UCSC Ensembl
Outerchr1:77467183..77475031hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386849
hg196849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9979362, essv9979361, essv9979360, essv9979364, essv9979363, essv9979365
SamplesNA19448, NA19023, NA19471, NA19390, NA19328, HG01578
Known GenesST6GALNAC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586513
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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