A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198875



Internal ID5712728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49090767..49096451hg38UCSC Ensembl
chr20:47707304..47712988hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg385685
hg195685
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646009
Supporting Variants
SamplesNA19093
Known GenesCSE1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198875
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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