A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16206091



Internal ID6207907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54030461..54041491hg38UCSC Ensembl
Innerchr20:54030461..54041491hg38UCSC Ensembl
Outerchr20:54030066..54041708hg38UCSC Ensembl
chr20:52647000..52658030hg19UCSC Ensembl
Innerchr20:52647000..52658030hg19UCSC Ensembl
Outerchr20:52646605..52658247hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3811031
hg1911031
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646133
Supporting Variants
SamplesHG04173
Known GenesBCAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16206091
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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