A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750712



Internal ID13303267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201385347..201385348hg38UCSC Ensembl
Innerchr2:201385248..201385447hg38UCSC Ensembl
Outerchr2:201385247..201385448hg38UCSC Ensembl
chr2:202250070..202250071hg19UCSC Ensembl
Innerchr2:202249971..202250170hg19UCSC Ensembl
Outerchr2:202249970..202250171hg19UCSC Ensembl
chr2:201958315..201958316hg18UCSC Ensembl
Innerchr2:201958415..201958216hg18UCSC Ensembl
Outerchr2:201958215..201958416hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303509
Supporting Variants
SamplesNA12004
Known GenesTRAK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750712
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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