A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864473



Internal ID13316968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74793324..74793343hg38UCSC Ensembl
Innerchr5:74793326..74793341hg38UCSC Ensembl
Outerchr5:74793322..74793345hg38UCSC Ensembl
chr5:74089149..74089168hg19UCSC Ensembl
Innerchr5:74089151..74089166hg19UCSC Ensembl
Outerchr5:74089147..74089170hg19UCSC Ensembl
chr5:74124905..74124924hg18UCSC Ensembl
Innerchr5:74124907..74124922hg18UCSC Ensembl
Outerchr5:74124903..74124926hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329876
Supporting Variants
SamplesNA12005
Known GenesFAM169A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864473
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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