A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644947



Internal ID6685010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:344520..365615hg38UCSC Ensembl
chr20:325164..346259hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3821096
hg1921096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv771e214
Supporting Variantsessv16107567
SamplesHG03730
Known GenesNRSN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644947
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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