A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302833



Internal ID14803095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227525128..227527219hg38UCSC Ensembl
Innerchr2:227525228..227527119hg38UCSC Ensembl
Outerchr2:227525028..227527319hg38UCSC Ensembl
chr2:228389844..228391935hg19UCSC Ensembl
Innerchr2:228389944..228391835hg19UCSC Ensembl
Outerchr2:228389744..228392035hg19UCSC Ensembl
chr2:228098088..228100179hg18UCSC Ensembl
Innerchr2:228098188..228100079hg18UCSC Ensembl
Outerchr2:228097988..228100279hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382092
hg192092
hg182092
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735449, essv7732287, essv7736172
SamplesNA18545, NA18956, NA18552
Known GenesAGFG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302833
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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