A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696556



Internal ID15025974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134729485..134729883hg38UCSC Ensembl
Innerchr9:134729484..134729884hg38UCSC Ensembl
Outerchr9:134728485..134730883hg38UCSC Ensembl
chr9:137621331..137621729hg19UCSC Ensembl
Innerchr9:137621330..137621730hg19UCSC Ensembl
Outerchr9:137620331..137622729hg19UCSC Ensembl
chr9:136761152..136761550hg18UCSC Ensembl
Innerchr9:136761551..136761151hg18UCSC Ensembl
Outerchr9:136760152..136762550hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428896
Supporting Variants
SamplesNA19238
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696556
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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