A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638145



Internal ID7024931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20533815..20542681hg38UCSC Ensembl
chr16:20545137..20554003hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15404951, essv15404948, essv15404947, essv15404953, essv15404949, essv15404950, essv15404955, essv15404952, essv15404954
SamplesNA19684, HG00238, NA18985, NA19152, NA12878, HG00263, HG01620, HG01108, HG01805
Known GenesACSM2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638145
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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