A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644966



Internal ID7031717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:887288..978010hg38UCSC Ensembl
chr20:867931..958653hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3890723
hg1990723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16109495
SamplesHG02085
Known GenesANGPT4, RSPO4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644966
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer