A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8899810



Internal ID13846769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:80538513..80538541hg38UCSC Ensembl
Innerchr1:80538525..80538527hg38UCSC Ensembl
Outerchr1:80538497..80538557hg38UCSC Ensembl
chr1:81004198..81004226hg19UCSC Ensembl
Innerchr1:81004210..81004212hg19UCSC Ensembl
Outerchr1:81004182..81004242hg19UCSC Ensembl
chr1:80776786..80776814hg18UCSC Ensembl
Innerchr1:80776800..80776798hg18UCSC Ensembl
Outerchr1:80776770..80776830hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363379
Supporting Variants
SamplesNA18510
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8899810
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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