A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418343



Internal ID14918615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40819976..40821174hg38UCSC Ensembl
Innerchr8:40820174..40820976hg38UCSC Ensembl
Outerchr8:40818976..40822174hg38UCSC Ensembl
chr8:40677495..40678693hg19UCSC Ensembl
Innerchr8:40677693..40678495hg19UCSC Ensembl
Outerchr8:40676495..40679693hg19UCSC Ensembl
chr8:40796652..40797850hg18UCSC Ensembl
Innerchr8:40797652..40796850hg18UCSC Ensembl
Outerchr8:40795652..40798850hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4134e59
Supporting Variantsessv8696293
SamplesNA19239
Known GenesZMAT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418343
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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