A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3420607



Internal ID15267565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7845918..7845937hg38UCSC Ensembl
Innerchr5:7845914..7845941hg38UCSC Ensembl
Outerchr5:7845895..7845960hg38UCSC Ensembl
chr5:7846031..7846050hg19UCSC Ensembl
Innerchr5:7846027..7846054hg19UCSC Ensembl
Outerchr5:7846008..7846073hg19UCSC Ensembl
chr5:7899031..7899050hg18UCSC Ensembl
Innerchr5:7899054..7899027hg18UCSC Ensembl
Outerchr5:7899008..7899073hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9620980, essv9620925, essv9620947, essv9620958, essv9620936, essv9620969
SamplesNA07346, NA11918, NA12872, NA11881, NA12873, NA12874
Known GenesC5orf49
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3420607
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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