A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696227



Internal ID15056899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142519289..142520987hg38UCSC Ensembl
Innerchr8:142519987..142520289hg38UCSC Ensembl
Outerchr8:142518289..142521987hg38UCSC Ensembl
chr8:143600650..143602348hg19UCSC Ensembl
Innerchr8:143601348..143601650hg19UCSC Ensembl
Outerchr8:143599650..143603348hg19UCSC Ensembl
chr8:143597652..143599350hg18UCSC Ensembl
Innerchr8:143598652..143598350hg18UCSC Ensembl
Outerchr8:143596652..143600350hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425822
Supporting Variants
SamplesNA19239
Known GenesBAI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696227
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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