A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616774



Internal ID7003660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29678818..29679122hg38UCSC Ensembl
Innerchr8:29678824..29679116hg38UCSC Ensembl
Outerchr8:29678812..29679128hg38UCSC Ensembl
chr8:29536334..29536638hg19UCSC Ensembl
Innerchr8:29536340..29536632hg19UCSC Ensembl
Outerchr8:29536328..29536644hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153633, essv13153634, essv13153632
SamplesNA19681, NA19717, NA19434
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616774
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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