A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408207



Internal ID14908483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2305620..2305620hg38UCSC Ensembl
Innerchr2:2305619..2305621hg38UCSC Ensembl
Outerchr2:2305570..2305670hg38UCSC Ensembl
chr2:2309392..2309392hg19UCSC Ensembl
Innerchr2:2309391..2309393hg19UCSC Ensembl
Outerchr2:2309342..2309442hg19UCSC Ensembl
chr2:2288399..2288399hg18UCSC Ensembl
Innerchr2:2288400..2288398hg18UCSC Ensembl
Outerchr2:2288349..2288449hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381140
hg191140
hg181140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653283, essv8653284, essv8653285
SamplesNA12891, NA12878, NA12892
Known GenesMYT1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408207
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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