A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645717



Internal ID6685779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35651587..35655606hg38UCSC Ensembl
chr20:34239509..34243528hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg384020
hg194020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16179395
SamplesHG00446
Known GenesCPNE1, RBM12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645717
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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