A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645553



Internal ID6685615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24502289..24652104hg38UCSC Ensembl
chr20:24482925..24632740hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38149816
hg19149816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16163967
SamplesHG03539
Known GenesSYNDIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645553
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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