A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696225



Internal ID15097883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142500589..142503787hg38UCSC Ensembl
Innerchr8:142501589..142502787hg38UCSC Ensembl
Outerchr8:142499589..142504787hg38UCSC Ensembl
chr8:143581950..143585148hg19UCSC Ensembl
Innerchr8:143582950..143584148hg19UCSC Ensembl
Outerchr8:143580950..143586148hg19UCSC Ensembl
chr8:143578952..143582150hg18UCSC Ensembl
Innerchr8:143579952..143581150hg18UCSC Ensembl
Outerchr8:143577952..143583150hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364070
Supporting Variants
SamplesNA19240
Known GenesBAI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696225
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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