A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324588



Internal ID14824869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40819976..40821274hg38UCSC Ensembl
Innerchr8:40820274..40820976hg38UCSC Ensembl
Outerchr8:40818976..40822274hg38UCSC Ensembl
chr8:40677495..40678793hg19UCSC Ensembl
Innerchr8:40677793..40678495hg19UCSC Ensembl
Outerchr8:40676495..40679793hg19UCSC Ensembl
chr8:40796652..40797950hg18UCSC Ensembl
Innerchr8:40797652..40796950hg18UCSC Ensembl
Outerchr8:40795652..40798950hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4134e59
Supporting Variantsessv8696294
SamplesNA19240
Known GenesZMAT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324588
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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