A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618908



Internal ID6659102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134479171..134484120hg38UCSC Ensembl
Innerchr8:134479171..134484120hg38UCSC Ensembl
Outerchr8:134478671..134484620hg38UCSC Ensembl
chr8:135491414..135496363hg19UCSC Ensembl
Innerchr8:135491414..135496363hg19UCSC Ensembl
Outerchr8:135490914..135496863hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13338802, essv13338801
SamplesHG00306, NA12751
Known GenesZFAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618908
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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