A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674893



Internal ID13371421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393673..100393688hg38UCSC Ensembl
Innerchr3:100393670..100393691hg38UCSC Ensembl
Outerchr3:100393655..100393706hg38UCSC Ensembl
chr3:100112517..100112532hg19UCSC Ensembl
Innerchr3:100112514..100112535hg19UCSC Ensembl
Outerchr3:100112499..100112550hg19UCSC Ensembl
chr3:101595207..101595222hg18UCSC Ensembl
Innerchr3:101595225..101595204hg18UCSC Ensembl
Outerchr3:101595189..101595240hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429571
Supporting Variants
SamplesNA12892
Known GenesTOMM70A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674893
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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