A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390245



Internal ID14890526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175074493..175074507hg38UCSC Ensembl
Innerchr2:175074468..175074532hg38UCSC Ensembl
Outerchr2:175074454..175074546hg38UCSC Ensembl
chr2:175939221..175939235hg19UCSC Ensembl
Innerchr2:175939196..175939260hg19UCSC Ensembl
Outerchr2:175939182..175939274hg19UCSC Ensembl
chr2:175647467..175647481hg18UCSC Ensembl
Innerchr2:175647506..175647442hg18UCSC Ensembl
Outerchr2:175647428..175647520hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864053
SamplesNA12005
Known GenesATF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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