A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583101



Internal ID7054483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20767228..20767547hg38UCSC Ensembl
chr16:20778550..20778869hg19UCSC Ensembl
chr16:20686051..20686370hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008054
Supporting Variants
SamplesHuRef
Known GenesACSM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583101
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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