A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7780461



Internal ID14231635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74682359..74682360hg38UCSC Ensembl
Innerchr1:74682342..74682377hg38UCSC Ensembl
Outerchr1:74682341..74682378hg38UCSC Ensembl
chr1:75148043..75148044hg19UCSC Ensembl
Innerchr1:75148026..75148061hg19UCSC Ensembl
Outerchr1:75148025..75148062hg19UCSC Ensembl
chr1:74920631..74920632hg18UCSC Ensembl
Innerchr1:74920649..74920614hg18UCSC Ensembl
Outerchr1:74920613..74920650hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303261
Supporting Variants
SamplesNA18579
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7780461
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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