A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618611



Internal ID6658805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120654753..120655607hg38UCSC Ensembl
Innerchr8:120654773..120655587hg38UCSC Ensembl
Outerchr8:120654733..120655627hg38UCSC Ensembl
chr8:121666993..121667847hg19UCSC Ensembl
Innerchr8:121667013..121667827hg19UCSC Ensembl
Outerchr8:121666973..121667867hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13304842
SamplesHG04162
Known GenesSNTB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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