A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618748



Internal ID7005630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126477740..126479823hg38UCSC Ensembl
Innerchr8:126477790..126479773hg38UCSC Ensembl
Outerchr8:126477673..126479890hg38UCSC Ensembl
chr8:127489985..127492068hg19UCSC Ensembl
Innerchr8:127490035..127492018hg19UCSC Ensembl
Outerchr8:127489918..127492135hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13317966
SamplesHG01846
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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