A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731405



Internal ID13623706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68217879..68217942hg38UCSC Ensembl
Innerchr8:68217910..68217911hg38UCSC Ensembl
Outerchr8:68217779..68218042hg38UCSC Ensembl
chr8:69130114..69130177hg19UCSC Ensembl
Innerchr8:69130145..69130146hg19UCSC Ensembl
Outerchr8:69130014..69130277hg19UCSC Ensembl
chr8:69292668..69292731hg18UCSC Ensembl
Innerchr8:69292700..69292699hg18UCSC Ensembl
Outerchr8:69292568..69292831hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302456
Supporting Variants
SamplesNA12878
Known GenesPREX2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731405
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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