A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373725



Internal ID14873987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200714223..200714235hg38UCSC Ensembl
Innerchr2:200714219..200714237hg38UCSC Ensembl
Outerchr2:200714207..200714249hg38UCSC Ensembl
chr2:201578946..201578958hg19UCSC Ensembl
Innerchr2:201578942..201578960hg19UCSC Ensembl
Outerchr2:201578930..201578972hg19UCSC Ensembl
chr2:201287191..201287203hg18UCSC Ensembl
Innerchr2:201287205..201287187hg18UCSC Ensembl
Outerchr2:201287175..201287217hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8910435, essv8910442, essv8910439, essv8910433, essv8910445, essv8910443, essv8910434, essv8910444, essv8910441, essv8910440, essv8910438, essv8910437
SamplesNA18947, NA18526, NA18558, NA18537, NA18573, NA19099, NA18523, NA18858, NA18542, NA18952, NA19116, NA18552
Known GenesAOX2P, LOC100507140
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373725
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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