A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692426



Internal ID14685647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9257906..9261004hg38UCSC Ensembl
Innerchr1:9258906..9260004hg38UCSC Ensembl
Outerchr1:9256906..9262004hg38UCSC Ensembl
chr1:9317965..9321063hg19UCSC Ensembl
Innerchr1:9318965..9320063hg19UCSC Ensembl
Outerchr1:9316965..9322063hg19UCSC Ensembl
chr1:9240552..9243650hg18UCSC Ensembl
Innerchr1:9241552..9242650hg18UCSC Ensembl
Outerchr1:9239552..9244650hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335318
Supporting Variants
SamplesNA19238
Known GenesH6PD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692426
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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