A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616749



Internal ID6656945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28879245..28880145hg38UCSC Ensembl
Innerchr8:28879245..28880145hg38UCSC Ensembl
Outerchr8:28878898..28880416hg38UCSC Ensembl
chr8:28736762..28737662hg19UCSC Ensembl
Innerchr8:28736762..28737662hg19UCSC Ensembl
Outerchr8:28736415..28737933hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153429, essv13153430, essv13153423, essv13153426, essv13153428, essv13153425, essv13153421, essv13153422, essv13153424, essv13153427
SamplesHG00743, HG01302, HG01052, HG00328, HG01082, HG01111, NA19789, HG01326, HG01303, HG00641
Known GenesINTS9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616749
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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