A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406942



Internal ID14907218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16856670..16949868hg38UCSC Ensembl
Innerchr1:16857670..16948868hg38UCSC Ensembl
Outerchr1:16855670..16950868hg38UCSC Ensembl
chr1:17183165..17276363hg19UCSC Ensembl
Innerchr1:17184165..17275363hg19UCSC Ensembl
Outerchr1:17182165..17277363hg19UCSC Ensembl
chr1:17055752..17148950hg18UCSC Ensembl
Innerchr1:17056752..17147950hg18UCSC Ensembl
Outerchr1:17054752..17149950hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3893199
hg1993199
hg1893199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54e59
Supporting Variantsessv8692062
SamplesNA19239
Known GenesCROCC, MIR3675
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406942
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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