A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809477



Internal ID13652785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100426418..100426868hg38UCSC Ensembl
Innerchr8:100426417..100426869hg38UCSC Ensembl
Outerchr8:100426308..100426988hg38UCSC Ensembl
chr8:101438646..101439096hg19UCSC Ensembl
Innerchr8:101438645..101439097hg19UCSC Ensembl
Outerchr8:101438536..101439216hg19UCSC Ensembl
chr8:101507822..101508272hg18UCSC Ensembl
Innerchr8:101508273..101507821hg18UCSC Ensembl
Outerchr8:101507712..101508392hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38451
hg19451
hg18451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402857
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809477
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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