A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310009



Internal ID15156960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66428161..66428162hg38UCSC Ensembl
Innerchr7:66428139..66428184hg38UCSC Ensembl
Outerchr7:66428138..66428185hg38UCSC Ensembl
chr7:65893148..65893149hg19UCSC Ensembl
Innerchr7:65893126..65893171hg19UCSC Ensembl
Outerchr7:65893125..65893172hg19UCSC Ensembl
chr7:65530583..65530584hg18UCSC Ensembl
Innerchr7:65530606..65530561hg18UCSC Ensembl
Outerchr7:65530560..65530607hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg384187
hg194187
hg184187
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839416
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310009
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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