A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645575



Internal ID6685637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25104610..25364011hg38UCSC Ensembl
chr20:25085246..25344647hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38259402
hg19259402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv779e214
Supporting Variantsessv16166447, essv16166446
SamplesHG03135, NA19454
Known GenesABHD12, ENTPD6, LOC284798, PYGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645575
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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