A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16182083



Internal ID6183921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38934425..39003285hg38UCSC Ensembl
chr20:37563068..37631928hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3868861
hg1968861
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645794
Supporting Variants
SamplesNA19377
Known GenesDHX35, FAM83D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16182083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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