A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618750



Internal ID7005632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126501609..126506858hg38UCSC Ensembl
Innerchr8:126501609..126506858hg38UCSC Ensembl
Outerchr8:126501109..126507358hg38UCSC Ensembl
chr8:127513854..127519103hg19UCSC Ensembl
Innerchr8:127513854..127519103hg19UCSC Ensembl
Outerchr8:127513354..127519603hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13317969
SamplesNA19007
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618750
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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