A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618374



Internal ID7005256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109352326..109353707hg38UCSC Ensembl
Innerchr8:109352330..109353704hg38UCSC Ensembl
Outerchr8:109352323..109353711hg38UCSC Ensembl
chr8:110364555..110365936hg19UCSC Ensembl
Innerchr8:110364559..110365933hg19UCSC Ensembl
Outerchr8:110364552..110365940hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381382
hg191382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13285045, essv13285047, essv13285046, essv13285048
SamplesHG02026, HG02085, NA18963, HG02049
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618374
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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