A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008054



Internal ID7073148
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583101
SamplesHuRef
Known GenesACSM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008054
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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