A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696293



Internal ID14710553
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 StatusS
Merged Variantsesv3418343
Supporting Variants
SamplesNA19239
Known GenesZMAT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696293
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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