A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336952



Internal ID15183940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37493776..37494974hg38UCSC Ensembl
Innerchr8:37493974..37494776hg38UCSC Ensembl
Outerchr8:37492776..37495974hg38UCSC Ensembl
chr8:37351294..37352492hg19UCSC Ensembl
Innerchr8:37351492..37352294hg19UCSC Ensembl
Outerchr8:37350294..37353492hg19UCSC Ensembl
chr8:37470452..37471650hg18UCSC Ensembl
Innerchr8:37471452..37470650hg18UCSC Ensembl
Outerchr8:37469452..37472650hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696286
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336952
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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