A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196485



Internal ID6198301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45744194..45758836hg38UCSC Ensembl
Innerchr20:45744344..45758686hg38UCSC Ensembl
Outerchr20:45744044..45758986hg38UCSC Ensembl
chr20:44372833..44387475hg19UCSC Ensembl
Innerchr20:44372983..44387325hg19UCSC Ensembl
Outerchr20:44372683..44387625hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3814643
hg1914643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645940
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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