A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618682



Internal ID7005564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124134899..124137362hg38UCSC Ensembl
Innerchr8:124134917..124137345hg38UCSC Ensembl
Outerchr8:124134882..124137380hg38UCSC Ensembl
chr8:125147140..125149603hg19UCSC Ensembl
Innerchr8:125147158..125149586hg19UCSC Ensembl
Outerchr8:125147123..125149621hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382464
hg192464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13310750
SamplesNA11992
Known GenesFER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618682
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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