A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616542



Internal ID6656738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19441521..19444478hg38UCSC Ensembl
Innerchr8:19441521..19444478hg38UCSC Ensembl
Outerchr8:19441344..19444722hg38UCSC Ensembl
chr8:19299032..19301989hg19UCSC Ensembl
Innerchr8:19299032..19301989hg19UCSC Ensembl
Outerchr8:19298855..19302233hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382958
hg192958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13131080, essv13131077, essv13131078, essv13131079
SamplesNA19334, NA19331, NA19314, NA19374
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616542
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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