A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838651



Internal ID15007288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201385356..201385357hg38UCSC Ensembl
Innerchr2:201385196..201385517hg38UCSC Ensembl
Outerchr2:201385195..201385518hg38UCSC Ensembl
chr2:202250079..202250080hg19UCSC Ensembl
Innerchr2:202249919..202250240hg19UCSC Ensembl
Outerchr2:202249918..202250241hg19UCSC Ensembl
chr2:201958324..201958325hg18UCSC Ensembl
Innerchr2:201958485..201958164hg18UCSC Ensembl
Outerchr2:201958163..201958486hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308284
Supporting Variants
SamplesNA19238
Known GenesTRAK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838651
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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