A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616753



Internal ID7003639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28985626..28987752hg38UCSC Ensembl
Innerchr8:28985626..28987752hg38UCSC Ensembl
Outerchr8:28985358..28987943hg38UCSC Ensembl
chr8:28843143..28845269hg19UCSC Ensembl
Innerchr8:28843143..28845269hg19UCSC Ensembl
Outerchr8:28842875..28845460hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382127
hg192127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153451, essv13153453, essv13153452
SamplesHG01864, HG01842, HG02396
Known GenesHMBOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616753
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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