A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652406



Internal ID14756716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40819821..40821180hg38UCSC Ensembl
Innerchr8:40819821..40821180hg38UCSC Ensembl
Outerchr8:40819695..40821573hg38UCSC Ensembl
chr8:40677340..40678699hg19UCSC Ensembl
Innerchr8:40677340..40678699hg19UCSC Ensembl
Outerchr8:40677214..40679092hg19UCSC Ensembl
chr8:40796497..40797856hg18UCSC Ensembl
Innerchr8:40796497..40797856hg18UCSC Ensembl
Outerchr8:40796371..40798249hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381360
hg191360
hg181360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345865
Supporting Variants
SamplesNA19240
Known GenesZMAT4
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652406
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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