A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616751



Internal ID7003637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28911329..28914075hg38UCSC Ensembl
Innerchr8:28911365..28914040hg38UCSC Ensembl
Outerchr8:28911294..28914111hg38UCSC Ensembl
chr8:28768846..28771592hg19UCSC Ensembl
Innerchr8:28768882..28771557hg19UCSC Ensembl
Outerchr8:28768811..28771628hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg382747
hg192747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153435, essv13153434, essv13153443, essv13153441, essv13153447, essv13153432, essv13153442, essv13153446, essv13153437, essv13153438, essv13153439, essv13153440, essv13153436, essv13153445, essv13153444, essv13153433
SamplesHG02386, HG02385, HG01031, HG02035, HG02058, HG02383, HG01813, HG02070, HG02152, HG00653, HG00436, HG00864, HG02181, HG02373, HG01863, NA18740
Known GenesHMBOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616751
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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