A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15514855



Internal ID5516671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72046969..72065087hg38UCSC Ensembl
chr16:72080868..72098986hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3818119
hg1918119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638989
Supporting Variants
SamplesNA18632
Known GenesHP, HPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15514855
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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