A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198892



Internal ID3643710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49691035..49700167hg38UCSC Ensembl
chr20:48307572..48316704hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg389133
hg199133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646019
Supporting Variants
SamplesHG03238
Known GenesB4GALT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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