A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696380



Internal ID15024873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7572820..7574618hg38UCSC Ensembl
Innerchr8:7573618..7573820hg38UCSC Ensembl
Outerchr8:7571820..7575618hg38UCSC Ensembl
chr8:7430342..7432140hg19UCSC Ensembl
Innerchr8:7431140..7431342hg19UCSC Ensembl
Outerchr8:7429342..7433140hg19UCSC Ensembl
chr8:7417752..7419550hg18UCSC Ensembl
Innerchr8:7418752..7418550hg18UCSC Ensembl
Outerchr8:7416752..7420550hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382916
Supporting Variants
SamplesNA19238
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696380
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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