A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693711



Internal ID15075366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8397771..8398869hg38UCSC Ensembl
Innerchr2:8397869..8398771hg38UCSC Ensembl
Outerchr2:8396771..8399869hg38UCSC Ensembl
chr2:8537901..8538999hg19UCSC Ensembl
Innerchr2:8537999..8538901hg19UCSC Ensembl
Outerchr2:8536901..8539999hg19UCSC Ensembl
chr2:8455352..8456450hg18UCSC Ensembl
Innerchr2:8456352..8455450hg18UCSC Ensembl
Outerchr2:8454352..8457450hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361039
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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