A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616543



Internal ID6656739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19460121..19464243hg38UCSC Ensembl
Innerchr8:19460126..19464239hg38UCSC Ensembl
Outerchr8:19460117..19464248hg38UCSC Ensembl
chr8:19317632..19321754hg19UCSC Ensembl
Innerchr8:19317637..19321750hg19UCSC Ensembl
Outerchr8:19317628..19321759hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg384123
hg194123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13131081
SamplesHG03857
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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