A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594072



Internal ID6981392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206797575..206803374hg38UCSC Ensembl
chr2:207662299..207668098hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828714, essv10828711, essv10828719, essv10828712, essv10828715, essv10828721, essv10828716, essv10828713, essv10828709, essv10828718, essv10828710, essv10828723, essv10828717, essv10828720, essv10828722, essv10828708
SamplesHG04212, HG04060, NA12045, HG02215, NA21128, NA12750, NA12815, NA11831, HG01789, NA06989, HG01861, HG03789, HG03684, HG00310, HG04098, NA07056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594072
Frequency
Sample Size2504
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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