A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004975



Internal ID7070071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:63650438..63651243hg38UCSC Ensembl
chr16:63684342..63685147hg19UCSC Ensembl
chr16:62241843..62242648hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3580297
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004975
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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