A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387925



Internal ID14888208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100338518..100340016hg38UCSC Ensembl
Innerchr3:100339016..100339518hg38UCSC Ensembl
Outerchr3:100337518..100341016hg38UCSC Ensembl
chr3:100057362..100058860hg19UCSC Ensembl
Innerchr3:100057860..100058362hg19UCSC Ensembl
Outerchr3:100056362..100059860hg19UCSC Ensembl
chr3:101540052..101541550hg18UCSC Ensembl
Innerchr3:101541052..101540550hg18UCSC Ensembl
Outerchr3:101539052..101542550hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693803
SamplesNA19239
Known GenesNIT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387925
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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