A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618186



Internal ID7005069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100215697..100217114hg38UCSC Ensembl
Innerchr8:100215727..100217084hg38UCSC Ensembl
Outerchr8:100215667..100217144hg38UCSC Ensembl
chr8:101227925..101229342hg19UCSC Ensembl
Innerchr8:101227955..101229312hg19UCSC Ensembl
Outerchr8:101227895..101229372hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13267704, essv13267703
SamplesNA18959, NA19075
Known GenesSPAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618186
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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