A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13317968



Internal ID5479049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126495017..126500858hg38UCSC Ensembl
Innerchr8:126495017..126500858hg38UCSC Ensembl
Outerchr8:126494517..126501358hg38UCSC Ensembl
chr8:127507262..127513103hg19UCSC Ensembl
Innerchr8:127507262..127513103hg19UCSC Ensembl
Outerchr8:127506762..127513603hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385842
hg195842
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618749
Supporting Variants
SamplesNA18977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13317968
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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