A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594391



Internal ID6981711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220832472..220835989hg38UCSC Ensembl
Innerchr2:220832522..220835939hg38UCSC Ensembl
Outerchr2:220832399..220836062hg38UCSC Ensembl
chr2:221697192..221700709hg19UCSC Ensembl
Innerchr2:221697242..221700659hg19UCSC Ensembl
Outerchr2:221697119..221700782hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383518
hg193518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10859443, essv10859444, essv10859442, essv10859445, essv10859441, essv10859446
SamplesHG03455, NA19152, NA18915, HG02577, HG02343, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594391
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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