A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618688



Internal ID7005570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124356968..124364998hg38UCSC Ensembl
Innerchr8:124356968..124364998hg38UCSC Ensembl
Outerchr8:124356857..124365073hg38UCSC Ensembl
chr8:125369209..125377239hg19UCSC Ensembl
Innerchr8:125369209..125377239hg19UCSC Ensembl
Outerchr8:125369098..125377314hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg388031
hg198031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13312193, essv13312194
SamplesNA18988, HG00622
Known GenesTMEM65
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618688
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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