A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16179872



Internal ID6181688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36894398..36896144hg38UCSC Ensembl
Innerchr20:36894403..36896139hg38UCSC Ensembl
Outerchr20:36894393..36896149hg38UCSC Ensembl
chr20:35522801..35524547hg19UCSC Ensembl
Innerchr20:35522806..35524542hg19UCSC Ensembl
Outerchr20:35522796..35524552hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381747
hg191747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645746
Supporting Variants
SamplesNA12383
Known GenesSAMHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16179872
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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