A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142628



Internal ID827380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10701584..10702430hg38UCSC Ensembl
Innerchr20:10701586..10702429hg38UCSC Ensembl
Outerchr20:10701583..10702432hg38UCSC Ensembl
chr20:10682232..10683078hg19UCSC Ensembl
Innerchr20:10682234..10683077hg19UCSC Ensembl
Outerchr20:10682231..10683080hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645213
Supporting Variants
SamplesHG00410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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