A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647064



Internal ID6687120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41456009..41569886hg38UCSC Ensembl
Innerchr21:41456159..41569736hg38UCSC Ensembl
Outerchr21:41455859..41570036hg38UCSC Ensembl
chr21:42827936..42941813hg19UCSC Ensembl
Innerchr21:42828086..42941663hg19UCSC Ensembl
Outerchr21:42827786..42941963hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38113878
hg19113878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16323583
SamplesHG02733
Known GenesMX1, TMPRSS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647064
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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