A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16123761



Internal ID2619885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4464674..4468882hg38UCSC Ensembl
Innerchr20:4464675..4468881hg38UCSC Ensembl
Outerchr20:4464673..4468883hg38UCSC Ensembl
chr20:4445321..4449529hg19UCSC Ensembl
Innerchr20:4445322..4449528hg19UCSC Ensembl
Outerchr20:4445320..4449530hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384209
hg194209
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645078
Supporting Variants
SamplesHG02317
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16123761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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