A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198985



Internal ID6200801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49825108..49835317hg38UCSC Ensembl
chr20:48441645..48451854hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3810210
hg1910210
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646036
Supporting Variants
SamplesHG01197
Known GenesSLC9A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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