A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696290



Internal ID15098222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38502177..38503775hg38UCSC Ensembl
Innerchr8:38502775..38503177hg38UCSC Ensembl
Outerchr8:38501177..38504775hg38UCSC Ensembl
chr8:38359695..38361293hg19UCSC Ensembl
Innerchr8:38360293..38360695hg19UCSC Ensembl
Outerchr8:38358695..38362293hg19UCSC Ensembl
chr8:38478852..38480450hg18UCSC Ensembl
Innerchr8:38479852..38479450hg18UCSC Ensembl
Outerchr8:38477852..38481450hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357303
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696290
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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